Variant report

Variant	rs717365
Chromosome Location	chr8:100546178-100546179
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	chr8:100544046..100548556-chr8:100548656..100552103,4	K562	blood:
2	chr8:100539051..100543758-chr8:100545879..100549609,5	K562	blood:

Variant related genes	Relation type
ENSG00000216069	Chromatin interaction
ENSG00000207804	Chromatin interaction
ENSG00000206699	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1039448	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955207	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10955208	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10955213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955214	1.00[JPT][hapmap]
rs10955215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11986595	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12234903	0.88[AMR][1000 genomes]
rs12541387	0.90[ASN][1000 genomes]
rs12542214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544095	0.90[ASN][1000 genomes]
rs12544691	0.80[ASN][1000 genomes]
rs12549477	1.00[JPT][hapmap]
rs12550617	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12676009	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12676915	1.00[JPT][hapmap]
rs12678012	0.89[ASN][1000 genomes]
rs12681244	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1386374	0.89[ASN][1000 genomes]
rs1386377	0.90[ASN][1000 genomes]
rs1388657	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs1487022	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs1545959	0.94[GIH][hapmap];1.00[JPT][hapmap]
rs16897430	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs16897435	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs16897440	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs16897530	0.83[ASN][1000 genomes]
rs1788152	0.84[ASN][1000 genomes]
rs1788157	0.84[ASN][1000 genomes]
rs2035619	0.90[ASN][1000 genomes]
rs2046936	0.84[AMR][1000 genomes]
rs2084556	0.84[ASN][1000 genomes]
rs2280061	0.92[ASN][1000 genomes]
rs2510200	0.84[ASN][1000 genomes]
rs3099853	0.82[ASN][1000 genomes]
rs3103102	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3103697	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3103698	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs3103702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3103713	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3103715	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3103716	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3103718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap]
rs3103722	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3105167	0.84[AMR][1000 genomes]
rs3105178	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes]
rs3105179	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3105180	0.81[AMR][1000 genomes]
rs3105182	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3105183	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3105184	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3105188	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3105189	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3105196	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105197	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105200	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3105202	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3110400	0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs3110401	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs3110405	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs3110407	0.84[AMR][1000 genomes]
rs3134147	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3134148	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3134149	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3134151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134154	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134157	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134159	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3134160	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134165	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134169	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134170	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134171	0.94[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs3134172	0.90[AMR][1000 genomes]
rs3134177	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3134178	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap]
rs3134186	0.81[AMR][1000 genomes]
rs3134187	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3134299	0.90[AMR][1000 genomes]
rs3134301	1.00[JPT][hapmap]
rs3134302	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3134304	0.87[AMR][1000 genomes]
rs34237216	0.83[AMR][1000 genomes]
rs4735615	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735619	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735620	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735627	0.93[ASN][1000 genomes]
rs56174158	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56193096	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57636892	0.90[ASN][1000 genomes]
rs59375661	0.93[ASN][1000 genomes]
rs61097926	0.92[ASN][1000 genomes]
rs6468690	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468691	1.00[JPT][hapmap]
rs6985574	0.90[ASN][1000 genomes]
rs6986467	0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap]
rs7009315	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs716454	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs721995	0.93[ASN][1000 genomes]
rs72674642	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72674644	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72674651	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72674675	0.92[ASN][1000 genomes]
rs72674676	0.85[ASN][1000 genomes]
rs72674678	0.88[ASN][1000 genomes]
rs72674698	0.90[ASN][1000 genomes]
rs72676204	0.90[ASN][1000 genomes]
rs72676222	0.85[ASN][1000 genomes]
rs7825783	0.90[ASN][1000 genomes]
rs957539	0.91[AMR][1000 genomes]
rs965657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
17	nsv891228	chr8:100532408-100546178	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv934182	chr8:100533461-100548588	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 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	chr8:100512200-100549800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:100512200-100557400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:100512200-100559400	Weak transcription	Small Intestine	intestine
6	chr8:100516400-100589000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:100530600-100548400	Weak transcription	HUVEC	blood vessel
8	chr8:100531600-100559200	Weak transcription	Fetal Kidney	kidney
9	chr8:100532400-100554200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:100533800-100569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:100534200-100559600	Weak transcription	HSMM	muscle
12	chr8:100534800-100559200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:100534800-100595800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:100535800-100554400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:100535800-100554600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:100535800-100573200	Weak transcription	Pancreas	Pancrea
17	chr8:100536000-100548800	Weak transcription	Lung	lung
18	chr8:100536000-100557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:100536000-100559800	Weak transcription	Ovary	ovary
20	chr8:100536000-100567200	Weak transcription	Aorta	Aorta
21	chr8:100536200-100559200	Weak transcription	Fetal Intestine Large	intestine
22	chr8:100536200-100559400	Weak transcription	Fetal Lung	lung
23	chr8:100536200-100561800	Weak transcription	Fetal Thymus	thymus
24	chr8:100536200-100596000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:100536600-100569600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:100536800-100561800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:100537000-100555600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:100537200-100564600	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:100537200-100568600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:100537200-100568800	Weak transcription	Primary B cells from cord blood	blood
31	chr8:100537200-100570200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:100537400-100548800	Weak transcription	Primary T cells from cord blood	blood
33	chr8:100537400-100558600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:100545600-100546200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:100545600-100546600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:100545600-100546600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:100545600-100547000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:100545600-100547000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:100545800-100546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:100545800-100546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:100545800-100546600	Enhancers	Dnd41	blood
42	chr8:100545800-100546800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:100546000-100546400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:100546000-100546400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:100546000-100546600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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