Variant report

Variant	rs1788157
Chromosome Location	chr8:100671851-100671852
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100629647..100631528-chr8:100671490..100673021,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10955213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10955214	1.00[JPT][hapmap]
rs10955215	1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11986595	0.84[ASN][1000 genomes]
rs12541387	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12542214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12544095	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12544691	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12549477	1.00[JPT][hapmap]
rs12550617	0.84[ASN][1000 genomes]
rs12676009	0.83[ASN][1000 genomes]
rs12676915	1.00[JPT][hapmap]
rs12678012	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12680257	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12681244	0.83[ASN][1000 genomes]
rs1386374	0.92[ASN][1000 genomes]
rs1386377	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1487022	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs1545959	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs16897430	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs16897435	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs16897440	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs16897530	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1788152	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035619	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2084556	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280061	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2510200	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510202	0.92[ASN][1000 genomes]
rs2510204	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3099853	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3103702	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3134151	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3134153	1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs3134169	0.83[ASN][1000 genomes]
rs3134170	0.83[ASN][1000 genomes]
rs3134171	0.81[GIH][hapmap];0.91[JPT][hapmap]
rs4735615	0.84[ASN][1000 genomes]
rs4735619	0.84[ASN][1000 genomes]
rs4735620	0.86[ASN][1000 genomes]
rs4735627	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56174158	0.81[ASN][1000 genomes]
rs57636892	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59375661	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61097926	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6468690	0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6468691	1.00[JPT][hapmap]
rs6985574	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986467	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7009315	0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap]
rs717365	1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs721995	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72674642	0.82[ASN][1000 genomes]
rs72674644	0.86[ASN][1000 genomes]
rs72674651	0.82[ASN][1000 genomes]
rs72674675	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674676	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72674678	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72674698	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676204	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676222	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825783	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs965657	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv611813	chr8:100635915-100682615	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1850143	chr8:100650034-100692370	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1817528	chr8:100653252-100685771	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
2	chr8:100643400-100676800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:100645800-100674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:100646600-100686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:100646800-100674400	Weak transcription	Dnd41	blood
6	chr8:100648400-100675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:100650000-100673600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:100650000-100675200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:100650000-100680800	Weak transcription	NHDF-Ad	bronchial
10	chr8:100650000-100681000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:100651800-100683000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:100654400-100682200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:100655800-100679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:100655800-100685000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:100656000-100674800	Weak transcription	Left Ventricle	heart
16	chr8:100656000-100694400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:100656200-100673600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:100656200-100675400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:100656400-100674800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:100662200-100684800	Weak transcription	Primary T cells from cord blood	blood
21	chr8:100662600-100674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:100665800-100674000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:100667800-100675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:100668000-100675400	Weak transcription	Lung	lung
25	chr8:100668000-100678400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:100668000-100688400	Weak transcription	Ovary	ovary
27	chr8:100668200-100686000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:100668400-100674200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:100668400-100686600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:100668800-100673600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:100669000-100675400	Weak transcription	Fetal Lung	lung
32	chr8:100669000-100679400	Weak transcription	Osteobl	bone
33	chr8:100669000-100680800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:100669200-100677600	Weak transcription	K562	blood
35	chr8:100669200-100678200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:100669200-100681600	Weak transcription	Fetal Thymus	thymus
37	chr8:100669400-100675600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:100669600-100676800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:100669600-100686200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:100671600-100683800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:100671800-100682400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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