Variant report

Variant	rs2074595
Chromosome Location	chr8:91055411-91055412
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10435550	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10435551	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675530	1.00[JPT][hapmap]
rs13312921	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13312954	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893166	0.85[CHB][hapmap]
rs16901941	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16902273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16902355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16902558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805811	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805815	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805824	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805826	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805837	0.93[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805839	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805850	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805892	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805894	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805901	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805902	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805907	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805911	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805912	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805914	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805915	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280779	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3026287	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3358	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758145	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4477076	0.81[EUR][1000 genomes]
rs6989727	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73306482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs769418	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7813378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7818138	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7822786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834282	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7844005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
2	chr8:91018600-91065400	Weak transcription	HMEC	breast
3	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
4	chr8:91027600-91066800	Weak transcription	NHEK	skin
5	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
6	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:91032000-91057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
9	chr8:91032000-91064800	Weak transcription	NHLF	lung
10	chr8:91032200-91057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:91033800-91064400	Weak transcription	NH-A	brain
12	chr8:91034200-91056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:91035000-91057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:91035400-91057600	Weak transcription	Gastric	stomach
15	chr8:91040200-91059200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:91040800-91057000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:91041200-91057400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:91041400-91058800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr8:91042600-91056400	Weak transcription	Right Ventricle	heart
20	chr8:91042800-91057000	Weak transcription	Spleen	Spleen
21	chr8:91043000-91057000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:91043000-91057000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:91046200-91056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:91046800-91059200	Strong transcription	Adipose Nuclei	Adipose
25	chr8:91047000-91057000	Weak transcription	HepG2	liver
26	chr8:91047200-91058800	Strong transcription	Primary B cells from cord blood	blood
27	chr8:91047600-91057000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:91048200-91056400	Strong transcription	Fetal Lung	lung
29	chr8:91048200-91056800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:91048200-91057400	Weak transcription	Brain Germinal Matrix	brain
31	chr8:91048200-91058600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:91048200-91058600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr8:91048200-91058800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:91048200-91059000	Strong transcription	Primary T cells from cord blood	blood
35	chr8:91048200-91059000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:91048200-91059000	Strong transcription	Liver	Liver
37	chr8:91048400-91056400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:91048600-91058600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:91048600-91058800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:91048600-91059000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:91049000-91056200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr8:91049000-91058600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:91049200-91058400	Strong transcription	Placenta	Placenta
44	chr8:91049400-91056600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:91049600-91057400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:91049600-91066800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:91049800-91056400	Weak transcription	HSMMtube	muscle
48	chr8:91049800-91067200	Weak transcription	Osteobl	bone
49	chr8:91050000-91057400	Weak transcription	Pancreas	Pancrea
50	chr8:91050200-91065000	Weak transcription	Small Intestine	intestine

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