rs11998950

Homo sapiens
C>T
KDM4C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0127 (3807/29944,GnomAD)
T=0137 (4001/29118,TOPMED)
T=0091 (455/5008,1000G)
T=0112 (430/3854,ALSPAC)
T=0117 (435/3708,TWINSUK)
chr9:6811507 (GRCh38.p7) (9p24.1)
ND
GWASdb2
1   publication(s)
See rs on genome
138 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.6811507C>T
GRCh37.p13 chr 9NC_000009.11:g.6811507C>T

Gene: KDM4C, lysine demethylase 4C(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KDM4C transcript variant 3NM_001146695.1:c.N/AIntron Variant
KDM4C transcript variant 4NM_001146696.1:c.N/AIntron Variant
KDM4C transcript variant 5NM_001304339.1:c.N/AIntron Variant
KDM4C transcript variant 6NM_001304340.1:c.N/AIntron Variant
KDM4C transcript variant 7NM_001304341.1:c.N/AIntron Variant
KDM4C transcript variant 1NM_015061.3:c.N/AIntron Variant
KDM4C transcript variant 8NR_130707.1:n.N/AIntron Variant
KDM4C transcript variant X1XM_006716741.2:c.N/AIntron Variant
KDM4C transcript variant X4XM_011517811.2:c.N/AIntron Variant
KDM4C transcript variant X2XM_017014498.1:c.N/AIntron Variant
KDM4C transcript variant X3XM_017014499.1:c.N/AIntron Variant
KDM4C transcript variant X5XM_017014500.1:c.N/AIntron Variant
KDM4C transcript variant X7XM_017014501.1:c.N/AIntron Variant
KDM4C transcript variant X9XM_017014502.1:c.N/AIntron Variant
KDM4C transcript variant X13XM_017014503.1:c.N/AIntron Variant
KDM4C transcript variant X15XM_017014504.1:c.N/AIntron Variant
KDM4C transcript variant X17XM_017014506.1:c.N/AIntron Variant
KDM4C transcript variant X6XM_011517812.2:c.N/AGenic Upstream Transcript Variant
KDM4C transcript variant X14XM_011517816.2:c.N/AGenic Upstream Transcript Variant
KDM4C transcript variant X16XM_017014505.1:c.N/AGenic Upstream Transcript Variant
KDM4C transcript variant X8XR_001746252.1:n.N/AIntron Variant
KDM4C transcript variant X10XR_001746253.1:n.N/AIntron Variant
KDM4C transcript variant X11XR_001746254.1:n.N/AIntron Variant
KDM4C transcript variant X12XR_001746255.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.809T=0.191
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.894T=0.106
1000GenomesGlobalStudy-wide5008C=0.909T=0.091
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.888T=0.112
The Genome Aggregation DatabaseAfricanSub8710C=0.804T=0.196
The Genome Aggregation DatabaseAmericanSub838C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1622C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18472C=0.889T=0.110
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.872T=0.127
The Genome Aggregation DatabaseOtherSub302C=0.960T=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.862T=0.137
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.883T=0.117
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs119989500.000875nicotine smoking19268276

eQTL of rs11998950 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs11998950 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr967615256761744E067-49763
chr967646116764808E067-46699
chr967648776765224E067-46283
chr967793476780229E067-31278
chr967810106781980E067-29527
chr967821686782242E067-29265
chr967824826782858E067-28649
chr967828876783044E067-28463
chr967830926783330E067-28177
chr967835826783651E067-27856
chr967849906785040E067-26467
chr967850566785106E067-26401
chr967857406785928E067-25579
chr967859896786058E067-25449
chr967862526786330E067-25177
chr967876496789026E067-22481
chr968055956805957E067-5550
chr968382866838361E06726779
chr968383726838471E06726865
chr967646116764808E068-46699
chr967648776765224E068-46283
chr967653496765445E068-46062
chr967793476780229E068-31278
chr967803156780708E068-30799
chr967808236780946E068-30561
chr967824826782858E068-28649
chr967828876783044E068-28463
chr967830926783330E068-28177
chr967850566785106E068-26401
chr967851146785288E068-26219
chr967857406785928E068-25579
chr967859896786058E068-25449
chr967876496789026E068-22481
chr968053846805441E068-6066
chr968055296805586E068-5921
chr968055956805957E068-5550
chr967793476780229E069-31278
chr967808236780946E069-30561
chr967810106781980E069-29527
chr967821686782242E069-29265
chr967824826782858E069-28649
chr967828876783044E069-28463
chr967830926783330E069-28177
chr967835826783651E069-27856
chr967838136783863E069-27644
chr967839056783955E069-27552
chr967849906785040E069-26467
chr967850566785106E069-26401
chr967851146785288E069-26219
chr967857406785928E069-25579
chr967859896786058E069-25449
chr967876496789026E069-22481
chr967891336789225E069-22282
chr968053846805441E069-6066
chr968055296805586E069-5921
chr968055956805957E069-5550
chr968060246806074E069-5433
chr967793476780229E071-31278
chr967803156780708E071-30799
chr967808236780946E071-30561
chr967810106781980E071-29527
chr967821686782242E071-29265
chr967824826782858E071-28649
chr967828876783044E071-28463
chr967830926783330E071-28177
chr967835826783651E071-27856
chr967838136783863E071-27644
chr967839056783955E071-27552
chr967841116784210E071-27297
chr967849906785040E071-26467
chr967850566785106E071-26401
chr967851146785288E071-26219
chr967857406785928E071-25579
chr967859896786058E071-25449
chr967871116787223E071-24284
chr967872376787350E071-24157
chr967874486787558E071-23949
chr967876496789026E071-22481
chr967891336789225E071-22282
chr968053846805441E071-6066
chr968055296805586E071-5921
chr968055956805957E071-5550
chr968060246806074E071-5433
chr968382866838361E07126779
chr968383726838471E07126865
chr967793476780229E072-31278
chr967803156780708E072-30799
chr967808236780946E072-30561
chr967810106781980E072-29527
chr967821686782242E072-29265
chr967824826782858E072-28649
chr967828876783044E072-28463
chr967830926783330E072-28177
chr967835826783651E072-27856
chr967838136783863E072-27644
chr967839056783955E072-27552
chr967849906785040E072-26467
chr967850566785106E072-26401
chr967851146785288E072-26219
chr967857406785928E072-25579
chr967859896786058E072-25449
chr967862526786330E072-25177
chr967866126786662E072-24845
chr967872376787350E072-24157
chr967874486787558E072-23949
chr967876496789026E072-22481
chr967891336789225E072-22282
chr968382866838361E07226779
chr968383726838471E07226865
chr967646116764808E073-46699
chr967648776765224E073-46283
chr967810106781980E073-29527
chr967859896786058E073-25449
chr967862526786330E073-25177
chr967876496789026E073-22481
chr967793476780229E074-31278
chr967803156780708E074-30799
chr967808236780946E074-30561
chr967810106781980E074-29527
chr967821686782242E074-29265
chr967824826782858E074-28649
chr967828876783044E074-28463
chr967830926783330E074-28177
chr967835826783651E074-27856
chr967876496789026E074-22481
chr968188306818942E0747323
chr968383726838471E07426865
chr967876496789026E081-22481
chr967891336789225E081-22282
chr968053846805441E081-6066
chr968055296805586E081-5921
chr968055956805957E081-5550
chr968060246806074E081-5433
chr968065666806636E081-4871
chr968067066806842E081-4665
chr967876496789026E082-22481
chr968055956805957E082-5550
chr968060246806074E082-5433