Variant report

Variant	rs6951288
Chromosome Location	chr7:102478510-102478511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102473090..102475084-chr7:102477070..102479073,2	K562	blood:

Variant related genes	Relation type
ENSG00000252643	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10257543	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10267275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs10273725	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs10435335	0.86[ASN][1000 genomes]
rs10487283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10499952	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs1100044	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11543736	0.89[ASN][1000 genomes]
rs11970869	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11972019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11972644	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]
rs11973870	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11978670	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11978768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11978799	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11980643	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11981980	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11983456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056296	0.96[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs12532495	0.80[EUR][1000 genomes]
rs12533386	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12538955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12540384	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12666764	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667218	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668434	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12669668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13242493	0.85[CEU][hapmap]
rs17136090	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17136137	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009503	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2159022	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2190673	0.81[EUR][1000 genomes]
rs2411056	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2908412	1.00[CEU][hapmap]
rs35479298	0.80[EUR][1000 genomes]
rs3779029	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41501847	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4357217	0.90[YRI][hapmap]
rs56894117	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56921864	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57253646	0.96[EUR][1000 genomes]
rs57350619	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57368671	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57545514	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57616389	0.80[EUR][1000 genomes]
rs57776797	0.98[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58191643	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58680618	0.81[EUR][1000 genomes]
rs58814323	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58919995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59278165	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59544295	0.99[EUR][1000 genomes]
rs59709436	0.99[EUR][1000 genomes]
rs60524601	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60599650	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61679881	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6465877	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6465878	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs6465879	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6465882	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs6465885	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs6942855	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6945369	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6946773	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6947403	0.85[CEU][hapmap]
rs6949150	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6952186	0.91[AFR][1000 genomes]
rs6953980	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs6956781	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957434	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957771	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968713	0.96[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs6975388	0.96[EUR][1000 genomes]
rs6975451	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6976005	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977145	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73406250	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73406284	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406302	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73408204	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73408250	0.80[EUR][1000 genomes]
rs7779121	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs7779145	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7779618	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7780981	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7796335	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7800387	1.00[CEU][hapmap]
rs7804322	0.85[EUR][1000 genomes]
rs847646	0.81[EUR][1000 genomes]
rs847647	0.85[CEU][hapmap]
rs847652	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs847656	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs847658	0.81[EUR][1000 genomes]
rs865865	0.81[EUR][1000 genomes]
rs9690210	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102448000-102479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:102452000-102480000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:102454200-102484600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:102459800-102481800	Weak transcription	Brain Substantia Nigra	brain
5	chr7:102460400-102480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:102460800-102480800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:102468000-102484600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:102468200-102481000	Weak transcription	Brain Germinal Matrix	brain
9	chr7:102469800-102478800	Weak transcription	Primary B cells from cord blood	blood
10	chr7:102470000-102479000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:102470000-102490200	Weak transcription	Gastric	stomach
12	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
13	chr7:102470200-102481800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:102470400-102479800	Weak transcription	Lung	lung
15	chr7:102470400-102480400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:102470400-102481600	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:102470400-102482800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:102470600-102481800	Weak transcription	Brain Angular Gyrus	brain
19	chr7:102470800-102484400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:102470800-102493200	Weak transcription	Primary T cells from cord blood	blood
21	chr7:102471600-102480200	Weak transcription	Liver	Liver
22	chr7:102471800-102500000	Weak transcription	Left Ventricle	heart
23	chr7:102472000-102484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:102475000-102478600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:102475000-102478600	Enhancers	NHDF-Ad	bronchial
26	chr7:102475000-102478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:102475800-102478600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:102476000-102480800	Weak transcription	GM12878-XiMat	blood
29	chr7:102476400-102479200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:102476600-102479200	Enhancers	Fetal Lung	lung
31	chr7:102476800-102478600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:102476800-102478800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:102477000-102478600	Enhancers	Aorta	Aorta
34	chr7:102477000-102478600	Enhancers	NH-A	brain
35	chr7:102477000-102479200	Weak transcription	Fetal Brain Male	brain
36	chr7:102477200-102478800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:102477400-102482400	Weak transcription	Stomach Mucosa	stomach
38	chr7:102477600-102478600	Enhancers	Fetal Muscle Leg	muscle
39	chr7:102477600-102478800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:102477600-102478800	Enhancers	Fetal Intestine Large	intestine
41	chr7:102477800-102479000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:102477800-102480400	Weak transcription	A549	lung
43	chr7:102477800-102481800	Weak transcription	Hela-S3	cervix
44	chr7:102477800-102482200	Weak transcription	Psoas Muscle	Psoas
45	chr7:102477800-102500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:102478000-102480800	Weak transcription	HSMM	muscle
47	chr7:102478000-102481000	Enhancers	HepG2	liver
48	chr7:102478000-102489200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:102478200-102480800	Weak transcription	HSMMtube	muscle
50	chr7:102478200-102481800	Weak transcription	Muscle Satellite Cultured Cells	--

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