Variant report

Variant	rs7511768
Chromosome Location	chr1:77782637-77782638
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77781240..77784199-chr1:77786063..77789429,3	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10493536	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10493602	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162312	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11162317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162319	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1167198	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167205	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12057706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12059542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12061595	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12062754	0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs12070404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12070567	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12071077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12072100	0.83[ASN][1000 genomes]
rs12076479	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12079185	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12079206	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12079234	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12079316	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12088702	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12089562	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12097728	0.83[ASN][1000 genomes]
rs1615404	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1616272	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs1670611	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670612	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670614	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670617	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17100172	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17100185	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17100198	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17100204	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17100317	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100319	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100422	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17100440	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1721163	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1721164	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1721165	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1721168	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1779177	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1779178	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1779180	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1779181	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1966873	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054017	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2054018	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2054019	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2154090	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602953	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2799551	0.95[ASN][1000 genomes]
rs2799552	0.84[ASN][1000 genomes]
rs2799553	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2815313	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28476720	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28605112	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2996486	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3962875	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4033035	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4033036	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4033037	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41292262	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949653	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs60401394	0.83[ASN][1000 genomes]
rs6661765	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665543	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6668328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669724	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6680763	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6683829	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685087	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6691415	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs6693999	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6698996	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6703688	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs721514	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72677859	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72677889	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72679506	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679513	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679514	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679531	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72679538	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72679540	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72679542	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7367731	0.84[ASN][1000 genomes]
rs7517796	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7529083	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7531431	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7534033	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7537603	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7545096	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv2756848	chr1:77775014-77788462	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2758945	chr1:77775014-77788462	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7511768	PIGK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77754400-77785800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
3	chr1:77774000-77790400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:77774800-77787200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:77777000-77794600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:77778800-77783200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:77779200-77784600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:77779400-77794400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:77779600-77786200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:77779600-77787200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:77779600-77794600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:77781400-77783000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:77781400-77783400	Enhancers	HSMM	muscle
14	chr1:77781400-77790000	Enhancers	NHDF-Ad	bronchial
15	chr1:77781600-77782800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:77781600-77783000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:77781600-77783000	Enhancers	NHLF	lung
18	chr1:77781600-77783000	Enhancers	Osteobl	bone
19	chr1:77781600-77783200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:77781800-77784600	Weak transcription	Brain Anterior Caudate	brain
21	chr1:77782000-77784000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:77782000-77787400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:77782000-77787400	Weak transcription	HMEC	breast
24	chr1:77782200-77784600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:77782400-77782800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:77782400-77784800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:77782400-77787600	Weak transcription	NHEK	skin

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