Variant report

Variant	rs10493537
Chromosome Location	chr1:77738382-77738383
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77727031..77728950-chr1:77737474..77739439,2	K562	blood:
2	chr1:77734487..77736181-chr1:77737477..77740179,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10493536	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs10493602	0.82[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs11162319	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs1167198	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs1167205	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs12062754	0.92[CHB][hapmap]
rs12070567	0.83[CHB][hapmap]
rs12076479	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs12079185	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs12079234	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs1502526	1.00[CEU][hapmap]
rs1616272	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs1670611	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs1670612	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[MEX][hapmap]
rs1670617	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs1670618	0.89[CHB][hapmap]
rs17099885	1.00[CEU][hapmap]
rs17099982	1.00[CEU][hapmap]
rs17099983	1.00[CEU][hapmap]
rs17099986	1.00[CEU][hapmap]
rs17100001	1.00[CEU][hapmap]
rs17100002	1.00[CEU][hapmap]
rs17100005	1.00[CEU][hapmap]
rs17100021	1.00[CEU][hapmap]
rs17100026	1.00[CEU][hapmap]
rs17100075	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17100133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100172	0.86[AMR][1000 genomes]
rs17100185	0.82[CEU][hapmap];0.92[CHB][hapmap];0.96[AMR][1000 genomes]
rs17100204	0.82[CEU][hapmap];0.92[CHB][hapmap];0.96[AMR][1000 genomes]
rs17100317	0.82[CEU][hapmap];0.92[CHB][hapmap];0.80[AMR][1000 genomes]
rs17100319	0.82[CEU][hapmap];0.92[CHB][hapmap];0.81[GIH][hapmap];0.80[AMR][1000 genomes]
rs17100422	0.83[CHB][hapmap]
rs17100440	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs1721165	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs1779177	0.81[CHB][hapmap]
rs1779178	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs1966873	0.88[AMR][1000 genomes]
rs2054017	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs2054018	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs2602953	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs2815313	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs28476720	0.86[AMR][1000 genomes]
rs28605112	0.86[AMR][1000 genomes]
rs3962875	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes]
rs4033035	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs4033036	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes]
rs4033037	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs4949653	0.84[CHB][hapmap]
rs6661765	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs6665543	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs6669724	0.82[CEU][hapmap];0.92[CHB][hapmap];0.82[GIH][hapmap];0.86[AMR][1000 genomes]
rs6680763	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs6683829	0.82[CEU][hapmap];0.92[CHB][hapmap];0.82[GIH][hapmap];0.86[AMR][1000 genomes]
rs6698996	0.92[CHB][hapmap]
rs6703688	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs721514	0.82[CEU][hapmap];0.92[CHB][hapmap];0.84[AMR][1000 genomes]
rs72677859	0.86[AMR][1000 genomes]
rs72677889	0.88[AMR][1000 genomes]
rs72679506	0.84[AMR][1000 genomes]
rs72679513	0.84[AMR][1000 genomes]
rs72679514	0.84[AMR][1000 genomes]
rs72679531	0.84[AMR][1000 genomes]
rs7511768	0.81[CHB][hapmap]
rs7517796	0.86[AMR][1000 genomes]
rs7531431	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs7534033	0.82[CEU][hapmap];0.92[CHB][hapmap];0.82[GIH][hapmap];0.86[AMR][1000 genomes]
rs7537603	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs839820	0.82[CEU][hapmap]
rs839821	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432398	chr1:77707391-77740836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10493537	PIGK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77736400-77740600	Enhancers	NHDF-Ad	bronchial
2	chr1:77736600-77738400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:77737000-77738400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:77737000-77738400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:77737000-77738400	Enhancers	NHLF	lung
6	chr1:77737000-77738800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:77737200-77738400	Enhancers	HSMM	muscle
8	chr1:77737200-77747400	Weak transcription	Aorta	Aorta
9	chr1:77737400-77738400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:77737800-77738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:77738200-77739400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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