Variant report

Variant	rs57190413
Chromosome Location	chr8:100552339-100552340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1027243	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10955214	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10955216	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10955218	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1117459	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11787264	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12547022	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12548482	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12549477	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12676915	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12677357	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1386373	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1388656	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1388657	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1487022	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1487024	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1502132	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1545959	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16897430	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16897435	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16897440	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16897453	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16897473	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1825754	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1825755	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1844947	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1949123	0.90[EUR][1000 genomes]
rs3103100	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3103103	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3103698	0.82[AMR][1000 genomes]
rs3103699	0.82[AMR][1000 genomes]
rs3103700	0.82[AMR][1000 genomes]
rs3103703	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3103704	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3103706	0.85[AMR][1000 genomes]
rs3103723	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3103724	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3103725	0.85[AMR][1000 genomes]
rs3105168	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3105169	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3105170	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3105171	0.81[AMR][1000 genomes]
rs3105174	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3105176	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3105177	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3105181	0.82[AMR][1000 genomes]
rs3105185	0.82[AMR][1000 genomes]
rs3105186	0.82[AMR][1000 genomes]
rs3105187	0.85[AMR][1000 genomes]
rs3105190	0.85[AMR][1000 genomes]
rs3105191	0.82[AMR][1000 genomes]
rs3105192	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105193	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105195	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3105198	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105201	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3105203	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3105204	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3105205	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3110393	0.85[AMR][1000 genomes]
rs3134146	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3134150	0.87[AMR][1000 genomes]
rs3134156	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3134158	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3134162	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3134166	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3134167	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3134168	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3134171	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3134173	0.82[AMR][1000 genomes]
rs3134176	0.82[AMR][1000 genomes]
rs3134180	0.85[AMR][1000 genomes]
rs3134181	0.84[AMR][1000 genomes]
rs3134182	0.85[AMR][1000 genomes]
rs3134183	0.85[AMR][1000 genomes]
rs3134184	0.85[AMR][1000 genomes]
rs3134185	0.82[AMR][1000 genomes]
rs3134300	0.82[AMR][1000 genomes]
rs3134301	0.82[AMR][1000 genomes]
rs34966198	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35692938	0.82[AMR][1000 genomes]
rs4391399	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6468691	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6986467	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7004966	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7016477	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72674627	0.87[AMR][1000 genomes]
rs72674643	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72674647	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72674650	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72674652	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs766675	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7816355	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7829651	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7832109	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7835824	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7837577	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
11	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
12	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
13	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
15	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
16	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100508400-100574000	Weak transcription	Gastric	stomach
2	chr8:100511600-100559400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:100512200-100557400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:100512200-100559400	Weak transcription	Small Intestine	intestine
5	chr8:100516400-100589000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:100531600-100559200	Weak transcription	Fetal Kidney	kidney
7	chr8:100532400-100554200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:100533800-100569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:100534200-100559600	Weak transcription	HSMM	muscle
10	chr8:100534800-100559200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:100534800-100595800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:100535800-100554400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:100535800-100554600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:100535800-100573200	Weak transcription	Pancreas	Pancrea
15	chr8:100536000-100557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:100536000-100559800	Weak transcription	Ovary	ovary
17	chr8:100536000-100567200	Weak transcription	Aorta	Aorta
18	chr8:100536200-100559200	Weak transcription	Fetal Intestine Large	intestine
19	chr8:100536200-100559400	Weak transcription	Fetal Lung	lung
20	chr8:100536200-100561800	Weak transcription	Fetal Thymus	thymus
21	chr8:100536200-100596000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:100536600-100569600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:100536800-100561800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:100537000-100555600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:100537200-100564600	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:100537200-100568600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:100537200-100568800	Weak transcription	Primary B cells from cord blood	blood
28	chr8:100537200-100570200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:100537400-100558600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:100546200-100554600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:100546600-100554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:100546600-100576600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:100550200-100558000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:100550200-100561400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:100550200-100568600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:100550400-100561200	Weak transcription	Primary T cells from cord blood	blood
37	chr8:100550400-100563800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:100550400-100569400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:100550400-100569400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:100550400-100596000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:100550400-100597600	Weak transcription	Dnd41	blood
42	chr8:100551800-100554600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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