Variant report

Variant	rs11995981
Chromosome Location	chr8:131688461-131688462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10088420	0.92[EUR][1000 genomes]
rs10095393	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10095479	0.92[EUR][1000 genomes]
rs10095628	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10095820	0.92[EUR][1000 genomes]
rs10096321	0.91[EUR][1000 genomes]
rs10098463	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101790	0.88[JPT][hapmap]
rs10107223	0.92[EUR][1000 genomes]
rs10108730	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10112041	0.89[ASN][1000 genomes]
rs10113164	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985368	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993977	0.84[EUR][1000 genomes]
rs1509847	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16893283	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16893288	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16904339	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1912271	0.92[EUR][1000 genomes]
rs1912272	0.92[EUR][1000 genomes]
rs1961665	0.92[EUR][1000 genomes]
rs28379502	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28428945	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28430960	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28870411	0.82[EUR][1000 genomes]
rs4294201	0.93[EUR][1000 genomes]
rs4472534	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4483174	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4560808	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59406705	0.82[EUR][1000 genomes]
rs7002882	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004166	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs715679	0.92[EUR][1000 genomes]
rs72728275	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72728278	0.88[ASN][1000 genomes]
rs72728285	0.88[ASN][1000 genomes]
rs73344752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7822131	0.84[EUR][1000 genomes]
rs7831277	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832079	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7844774	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs952132	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs956481	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3522483	chr8:131688380-131689211	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3522484	chr8:131688380-131689211	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131672400-131689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:131683400-131688600	Enhancers	NHDF-Ad	bronchial
3	chr8:131686200-131689600	Weak transcription	Lung	lung
4	chr8:131686200-131694800	Weak transcription	Esophagus	oesophagus
5	chr8:131686800-131688600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:131688000-131691400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:131688200-131688600	Weak transcription	Ovary	ovary
8	chr8:131688200-131692400	Weak transcription	Brain Germinal Matrix	brain
9	chr8:131688200-131694200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:131688200-131694200	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:131688200-131694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:131688400-131689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:131688400-131690000	Weak transcription	NHEK	skin
14	chr8:131688400-131692200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:131688400-131692400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:131688400-131692800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:131688400-131693400	Weak transcription	A549	lung
18	chr8:131688400-131693600	Weak transcription	NHLF	lung
19	chr8:131688400-131694000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:131688400-131694400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:131688400-131694400	Weak transcription	HSMMtube	muscle
22	chr8:131688400-131694600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:131688400-131694600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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