Variant report

Variant	rs11972644
Chromosome Location	chr7:102500711-102500712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102499316..102501151-chr7:102502125..102504544,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10257543	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10267275	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[ASN][1000 genomes]
rs10273725	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10435335	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10487283	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10499952	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1100044	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11543736	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11970869	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972019	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11973870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11978670	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11978768	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11978799	1.00[CEU][hapmap];0.81[YRI][hapmap];0.99[EUR][1000 genomes]
rs11980643	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11981980	0.92[CEU][hapmap]
rs11983456	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11983521	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056296	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes]
rs12532495	0.95[EUR][1000 genomes]
rs12533386	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12538955	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12540384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666764	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12667218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12668434	0.92[CEU][hapmap]
rs12669668	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12671803	0.93[EUR][1000 genomes]
rs13242493	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs17136090	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs17136137	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009503	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2159022	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190673	0.96[EUR][1000 genomes]
rs2228686	0.83[EUR][1000 genomes]
rs2411056	0.96[EUR][1000 genomes]
rs2411059	0.94[EUR][1000 genomes]
rs2908412	0.92[CEU][hapmap]
rs35479298	0.95[EUR][1000 genomes]
rs3779029	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41501847	1.00[CEU][hapmap];0.81[YRI][hapmap];0.99[EUR][1000 genomes]
rs4296965	0.92[EUR][1000 genomes]
rs56894117	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56921864	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57253646	0.80[EUR][1000 genomes]
rs57350619	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57368671	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57545514	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57616389	0.95[EUR][1000 genomes]
rs57776797	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58191643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58680618	0.92[EUR][1000 genomes]
rs58814323	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58919995	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59278165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59544295	0.82[EUR][1000 genomes]
rs59709436	0.82[EUR][1000 genomes]
rs60524601	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60599650	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61679881	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465877	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6465878	0.93[CEU][hapmap];0.99[EUR][1000 genomes]
rs6465879	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6465882	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6465885	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6942855	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6945369	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6946773	0.92[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6947403	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs6949150	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6951288	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6952186	0.87[AFR][1000 genomes]
rs6953980	1.00[CEU][hapmap];0.81[YRI][hapmap];0.99[EUR][1000 genomes]
rs6956781	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6957434	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6957771	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6967389	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6968713	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs6973081	0.89[YRI][hapmap]
rs6975388	0.80[EUR][1000 genomes]
rs6975451	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6976005	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6977145	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73406250	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73406284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73406302	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73408204	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73408250	0.95[EUR][1000 genomes]
rs7779121	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs7779145	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs7779618	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7780405	0.84[CEU][hapmap]
rs7780981	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7796335	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800387	0.92[CEU][hapmap]
rs7804322	0.96[EUR][1000 genomes]
rs847646	0.96[EUR][1000 genomes]
rs847647	0.92[CEU][hapmap]
rs847652	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs847656	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs847658	0.85[CEU][hapmap];0.96[EUR][1000 genomes]
rs865865	0.96[EUR][1000 genomes]
rs9690210	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv608059	chr7:102470455-102504773	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
2	chr7:102477800-102500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:102498800-102501200	Enhancers	HSMM	muscle
4	chr7:102499000-102501400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:102499200-102501200	Enhancers	Fetal Stomach	stomach
6	chr7:102499200-102501200	Enhancers	NHLF	lung
7	chr7:102499600-102500800	Enhancers	Fetal Lung	lung
8	chr7:102499600-102501200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:102499600-102501200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:102499600-102501200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:102499600-102501200	Strong transcription	K562	blood
12	chr7:102499600-102501400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:102499800-102501000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:102499800-102501200	Enhancers	A549	lung
15	chr7:102500000-102500800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:102500000-102500800	Enhancers	Fetal Kidney	kidney
17	chr7:102500000-102501000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:102500000-102501000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:102500000-102501000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:102500000-102501200	Enhancers	Gastric	stomach
21	chr7:102500000-102501200	Enhancers	Ovary	ovary
22	chr7:102500000-102501200	Enhancers	HSMMtube	muscle
23	chr7:102500000-102501200	Enhancers	Osteobl	bone
24	chr7:102500000-102501800	Enhancers	NHDF-Ad	bronchial
25	chr7:102500200-102500800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:102500200-102501200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:102500200-102501200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:102500200-102501600	Enhancers	HUVEC	blood vessel
29	chr7:102500400-102501400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:102500400-102503600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:102500600-102502000	Enhancers	HepG2	liver
32	chr7:102500600-102502600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:102500600-102513800	Weak transcription	Aorta	Aorta
34	chr7:102500600-102514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:102500600-102518400	Weak transcription	Left Ventricle	heart

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