Variant report

Variant	rs11562671
Chromosome Location	chr8:118974530-118974531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11562687	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562703	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562737	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562738	0.94[EUR][1000 genomes]
rs11562774	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562775	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562776	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562821	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562822	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562823	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17430645	1.00[CEU][hapmap]
rs17430694	0.83[YRI][hapmap]
rs17430721	1.00[CEU][hapmap]
rs17430728	0.83[YRI][hapmap]
rs17430749	1.00[YRI][hapmap]
rs17430755	1.00[CEU][hapmap]
rs17430819	1.00[CEU][hapmap]
rs17430930	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17430965	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17431118	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17431152	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17431166	1.00[CEU][hapmap]
rs17431208	1.00[CEU][hapmap]
rs17431215	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17431249	1.00[CEU][hapmap]
rs17453105	1.00[CEU][hapmap]
rs17453344	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17453357	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17453448	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17453560	1.00[CEU][hapmap]
rs17453567	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17453602	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17453651	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17453672	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17475659	0.85[YRI][hapmap]
rs17475666	1.00[YRI][hapmap]
rs17475673	1.00[YRI][hapmap]
rs17475687	0.85[YRI][hapmap]
rs17475694	0.85[YRI][hapmap]
rs17475722	0.85[YRI][hapmap]
rs17475743	0.85[YRI][hapmap]
rs17475785	0.85[YRI][hapmap]
rs17475946	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17476226	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17476233	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17476254	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17476282	0.83[YRI][hapmap]
rs17476296	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17504490	0.85[YRI][hapmap]
rs17504568	0.85[YRI][hapmap]
rs17504631	1.00[YRI][hapmap]
rs17504988	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2086008	0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs2086009	0.81[EUR][1000 genomes]
rs28357284	1.00[CEU][hapmap]
rs4480147	0.81[EUR][1000 genomes]
rs57858101	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59628055	1.00[EUR][1000 genomes]
rs60822517	1.00[EUR][1000 genomes]
rs61601333	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7004615	0.81[EUR][1000 genomes]
rs7843728	1.00[CEU][hapmap]
rs7843780	1.00[CEU][hapmap]
rs7844054	1.00[CEU][hapmap]
rs7844255	1.00[CEU][hapmap]

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	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118969000-118974600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:118969800-118986800	Weak transcription	Lung	lung
3	chr8:118970000-118975200	Weak transcription	Right Atrium	heart
4	chr8:118970200-118981800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
6	chr8:118970600-118977600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:118970600-118981800	Weak transcription	Fetal Lung	lung
8	chr8:118970800-118976000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:118970800-118989000	Weak transcription	HUVEC	blood vessel
10	chr8:118971400-118978200	Weak transcription	Fetal Heart	heart
11	chr8:118971600-118976600	Weak transcription	HepG2	liver
12	chr8:118971600-118978400	Weak transcription	Small Intestine	intestine
13	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
14	chr8:118971800-118974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:118971800-118976400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:118971800-118977200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:118971800-118978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:118971800-118979600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:118971800-118981800	Weak transcription	NH-A	brain
20	chr8:118971800-118983200	Weak transcription	Pancreas	Pancrea
21	chr8:118971800-118989000	Weak transcription	Ovary	ovary
22	chr8:118972000-118975200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:118972000-118989600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:118972200-118975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:118972200-118975800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:118972200-118976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:118972200-118976200	Weak transcription	NHLF	lung
28	chr8:118972200-118979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:118972200-118979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:118972200-118981800	Weak transcription	Aorta	Aorta
31	chr8:118972200-118989600	Weak transcription	HSMM	muscle
32	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:118972600-118975600	Enhancers	Liver	Liver
34	chr8:118972800-118975200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:118973000-118978400	Weak transcription	NHDF-Ad	bronchial
36	chr8:118973200-118975400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:118973200-118975600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:118973400-118975000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:118973400-118975800	Weak transcription	Osteobl	bone
40	chr8:118973400-118981600	Weak transcription	HMEC	breast
41	chr8:118973400-118982000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:118973400-118982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:118973600-118974600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:118973600-118975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:118973600-118981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:118973600-118981600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:118973800-118974800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:118974000-118974600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:118974000-118975200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:118974000-118975200	Weak transcription	NHEK	skin

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