Variant report

Variant	rs2267542
Chromosome Location	chr8:91042386-91042387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10435550	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10435551	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13312921	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13312954	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16901941	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16902273	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16902355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16902558	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805811	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805815	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805824	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805826	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805850	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805892	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805894	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805901	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805902	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805907	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805911	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805912	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805914	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805915	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2074594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280779	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3026287	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3358	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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];0.95[ASN][1000 genomes]
rs73306482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs769418	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7813378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818138	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826471	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834282	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7844005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
3	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
4	chr8:91018600-91065400	Weak transcription	HMEC	breast
5	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
6	chr8:91019800-91048600	Weak transcription	K562	blood
7	chr8:91027600-91066800	Weak transcription	NHEK	skin
8	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
9	chr8:91030000-91049600	Weak transcription	Small Intestine	intestine
10	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:91032000-91049000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:91032000-91050800	Weak transcription	Esophagus	oesophagus
13	chr8:91032000-91050800	Weak transcription	NHDF-Ad	bronchial
14	chr8:91032000-91051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:91032000-91057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
17	chr8:91032000-91064800	Weak transcription	NHLF	lung
18	chr8:91032200-91051400	Weak transcription	Brain Substantia Nigra	brain
19	chr8:91032200-91057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:91032400-91049200	Weak transcription	Brain Angular Gyrus	brain
21	chr8:91032400-91049200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:91032400-91051200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:91032400-91054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:91032600-91049200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:91033000-91049600	Weak transcription	Fetal Intestine Small	intestine
26	chr8:91033000-91049600	Weak transcription	Fetal Stomach	stomach
27	chr8:91033600-91045600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:91033800-91042600	Weak transcription	Fetal Heart	heart
29	chr8:91033800-91064400	Weak transcription	NH-A	brain
30	chr8:91034200-91056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:91034600-91049000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:91034800-91042600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:91034800-91042600	Weak transcription	HSMMtube	muscle
34	chr8:91034800-91048600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:91034800-91049200	Weak transcription	Placenta	Placenta
36	chr8:91035000-91049000	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:91035000-91057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:91035400-91048600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:91035400-91057600	Weak transcription	Gastric	stomach
40	chr8:91035800-91042600	Weak transcription	HSMM	muscle
41	chr8:91035800-91048200	Weak transcription	Fetal Lung	lung
42	chr8:91035800-91048400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:91035800-91049200	Weak transcription	Osteobl	bone
44	chr8:91036000-91042600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:91036200-91042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:91036200-91049000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:91036200-91049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:91039600-91046600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr8:91040000-91044200	Strong transcription	Dnd41	blood
50	chr8:91040000-91046400	Strong transcription	Primary B cells from cord blood	blood

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