rs6917517

Homo sapiens
C>T
PSORS1C1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0154 (4610/29916,GnomAD)
T=0134 (3908/29118,TOPMED)
T=0189 (948/5008,1000G)
T=0125 (483/3854,ALSPAC)
T=0134 (496/3708,TWINSUK)
chr6:31114584 (GRCh38.p7) (6p21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.31114584C>T
GRCh37.p13 chr 6NC_000006.11:g.31082361C>T
PSORS1C1 RefSeqGeneNG_021348.1:g.4754C>T
CDSN RefSeqGeneNG_012192.1:g.10863G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.3:g.2596959C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.2:g.2597065C>T
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.2:g.2372583T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.1:g.2378179T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.2:g.2373948C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.1:g.2379533C>T
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.2:g.2425098C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.1:g.2430718C>T
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.2:g.2458701C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.1:g.2464286C>T

Gene: PSORS1C1, psoriasis susceptibility 1 candidate 1(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
PSORS1C1 transcriptNM_014068.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.911T=0.089
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.798T=0.202
1000GenomesEuropeSub1006C=0.817T=0.183
1000GenomesGlobalStudy-wide5008C=0.811T=0.189
1000GenomesSouth AsianSub978C=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.875T=0.125
The Genome Aggregation DatabaseAfricanSub8708C=0.895T=0.105
The Genome Aggregation DatabaseAmericanSub836C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1606C=0.791T=0.209
The Genome Aggregation DatabaseEuropeSub18464C=0.832T=0.167
The Genome Aggregation DatabaseGlobalStudy-wide29916C=0.845T=0.154
The Genome Aggregation DatabaseOtherSub302C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.865T=0.134
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.866T=0.134
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs69175170.000374alcohol consumption (maxi-drinks)24277619

eQTL of rs6917517 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:31082361MICAENSG00000204520.8C>T6.1608e-17-288995Putamen_basal_ganglia

meQTL of rs6917517 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 )
chr63103338731033599E067-48762
chr63103578631037089E067-45272
chr63103757331037624E067-44737
chr63103781431037884E067-44477
chr63103837731038941E067-43420
chr63104020631040266E067-42095
chr63104028731040337E067-42024
chr63104041031040951E067-41410
chr63108145831081620E067-741
chr63108167431083243E0670
chr63109053831091087E0678177
chr63109115831091353E0678797
chr63112453931124650E06742178
chr63103338731033599E068-48762
chr63103757331037624E068-44737
chr63103837731038941E068-43420
chr63104020631040266E068-42095
chr63104028731040337E068-42024
chr63104041031040951E068-41410
chr63104721831047930E068-34431
chr63104799831048075E068-34286
chr63106091131061318E068-21043
chr63106206231062700E068-19661
chr63106289931062979E068-19382
chr63108167431083243E0680
chr63109053831091087E0688177
chr63109115831091353E0688797
chr63103837731038941E069-43420
chr63104020631040266E069-42095
chr63104028731040337E069-42024
chr63104041031040951E069-41410
chr63106206231062700E069-19661
chr63106289931062979E069-19382
chr63108145831081620E069-741
chr63108167431083243E0690
chr63108335431083534E069993
chr63104020631040266E070-42095
chr63104028731040337E070-42024
chr63104041031040951E070-41410
chr63104133531041425E070-40936
chr63104721831047930E070-34431
chr63104799831048075E070-34286
chr63106463231064737E070-17624
chr63112453931124650E07042178
chr63103338731033599E071-48762
chr63103757331037624E071-44737
chr63103781431037884E071-44477
chr63103837731038941E071-43420
chr63104020631040266E071-42095
chr63104028731040337E071-42024
chr63104041031040951E071-41410
chr63105493331055151E071-27210
chr63105525831055317E071-27044
chr63105535831055659E071-26702
chr63106206231062700E071-19661
chr63106289931062979E071-19382
chr63108124331081293E071-1068
chr63108145831081620E071-741
chr63108167431083243E0710
chr63108335431083534E071993
chr63103578631037089E072-45272
chr63103837731038941E072-43420
chr63104020631040266E072-42095
chr63104028731040337E072-42024
chr63104041031040951E072-41410
chr63106206231062700E072-19661
chr63108167431083243E0720
chr63103578631037089E073-45272
chr63103837731038941E073-43420
chr63104020631040266E073-42095
chr63104028731040337E073-42024
chr63106206231062700E073-19661
chr63108167431083243E0730
chr63108335431083534E073993
chr63108362531083714E0731264
chr63108463031084691E0732269
chr63108483331085085E0732472
chr63109053831091087E0738177
chr63109115831091353E0738797
chr63103837731038941E074-43420
chr63104020631040266E074-42095
chr63104028731040337E074-42024
chr63104041031040951E074-41410
chr63106091131061318E074-21043
chr63106133731061470E074-20891
chr63106206231062700E074-19661
chr63106289931062979E074-19382
chr63108124331081293E074-1068
chr63108145831081620E074-741
chr63108167431083243E0740
chr63108335431083534E074993
chr63109053831091087E0748177
chr63109115831091353E0748797
chr63103578631037089E081-45272
chr63103837731038941E081-43420
chr63104721831047930E082-34431
chr63104799831048075E082-34286
chr63112809631128146E08245735










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63112548231125561E06743121
chr63112561631127609E06743255
chr63112548231125561E06843121
chr63112561631127609E06843255
chr63112548231125561E06943121
chr63112561631127609E06943255
chr63112548231125561E07043121
chr63112561631127609E07043255
chr63112548231125561E07143121
chr63112561631127609E07143255
chr63112548231125561E07243121
chr63112561631127609E07243255
chr63112548231125561E07343121
chr63112561631127609E07343255
chr63112561631127609E07443255
chr63112548231125561E08143121
chr63112561631127609E08143255
chr63112548231125561E08243121
chr63112561631127609E08243255