Variant report

Variant	rs17431020
Chromosome Location	chr8:118974788-118974789
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	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10107685	1.00[JPT][hapmap]
rs11779439	1.00[JPT][hapmap]
rs11781699	1.00[JPT][hapmap]
rs11989463	1.00[JPT][hapmap]
rs12541851	1.00[JPT][hapmap]
rs12542013	1.00[JPT][hapmap]
rs12544064	1.00[JPT][hapmap]
rs12544831	1.00[AFR][1000 genomes]
rs17430287	1.00[JPT][hapmap]
rs17439693	1.00[JPT][hapmap]
rs17450793	1.00[JPT][hapmap]
rs17453176	1.00[JPT][hapmap]
rs17503215	1.00[JPT][hapmap]
rs4345585	1.00[JPT][hapmap]
rs7842361	1.00[JPT][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	chr8:118969800-118986800	Weak transcription	Lung	lung
2	chr8:118970000-118975200	Weak transcription	Right Atrium	heart
3	chr8:118970200-118981800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
5	chr8:118970600-118977600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:118970600-118981800	Weak transcription	Fetal Lung	lung
7	chr8:118970800-118976000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:118970800-118989000	Weak transcription	HUVEC	blood vessel
9	chr8:118971400-118978200	Weak transcription	Fetal Heart	heart
10	chr8:118971600-118976600	Weak transcription	HepG2	liver
11	chr8:118971600-118978400	Weak transcription	Small Intestine	intestine
12	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
13	chr8:118971800-118974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:118971800-118976400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:118971800-118977200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:118971800-118978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:118971800-118979600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:118971800-118981800	Weak transcription	NH-A	brain
19	chr8:118971800-118983200	Weak transcription	Pancreas	Pancrea
20	chr8:118971800-118989000	Weak transcription	Ovary	ovary
21	chr8:118972000-118975200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:118972000-118989600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:118972200-118975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:118972200-118975800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:118972200-118976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:118972200-118976200	Weak transcription	NHLF	lung
27	chr8:118972200-118979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:118972200-118979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:118972200-118981800	Weak transcription	Aorta	Aorta
30	chr8:118972200-118989600	Weak transcription	HSMM	muscle
31	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:118972600-118975600	Enhancers	Liver	Liver
33	chr8:118972800-118975200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:118973000-118978400	Weak transcription	NHDF-Ad	bronchial
35	chr8:118973200-118975400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:118973200-118975600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:118973400-118975000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:118973400-118975800	Weak transcription	Osteobl	bone
39	chr8:118973400-118981600	Weak transcription	HMEC	breast
40	chr8:118973400-118982000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:118973400-118982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:118973600-118975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:118973600-118981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:118973600-118981600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:118973800-118974800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:118974000-118975200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:118974000-118975200	Weak transcription	NHEK	skin
48	chr8:118974200-118976400	Weak transcription	A549	lung
49	chr8:118974200-118978400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:118974400-118975200	Weak transcription	H1 Cell Line	embryonic stem cell

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