Variant report

Variant	rs715679
Chromosome Location	chr8:131739600-131739601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10088420	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095393	0.81[EUR][1000 genomes]
rs10095479	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095628	0.81[EUR][1000 genomes]
rs10095820	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096321	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10098463	0.92[EUR][1000 genomes]
rs10101790	0.81[CEU][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10105307	0.86[ASN][1000 genomes]
rs10107223	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108730	0.85[EUR][1000 genomes]
rs10113164	0.92[EUR][1000 genomes]
rs11985368	0.92[EUR][1000 genomes]
rs11995981	0.92[EUR][1000 genomes]
rs1509847	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16893283	0.88[EUR][1000 genomes]
rs16893288	0.88[EUR][1000 genomes]
rs16904337	0.92[EUR][1000 genomes]
rs16904339	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1912271	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912272	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961665	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379502	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28428945	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28430960	0.95[EUR][1000 genomes]
rs28870411	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4294201	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4472534	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4483174	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4560808	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59406705	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7002882	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7004166	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72728275	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72728285	0.85[EUR][1000 genomes]
rs72730003	0.87[ASN][1000 genomes]
rs73344752	0.92[EUR][1000 genomes]
rs7822131	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7831277	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7832079	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7844774	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs952132	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs956481	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	nsv831462	chr8:131704119-131895793	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131739200-131739600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:131739200-131739600	Enhancers	NHEK	skin
3	chr8:131739200-131740200	Enhancers	Adipose Nuclei	Adipose
4	chr8:131739200-131740400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:131739200-131740600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:131739200-131740600	Flanking Active TSS	A549	lung
7	chr8:131739200-131740800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:131739200-131740800	Enhancers	HSMM	muscle
9	chr8:131739200-131741000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:131739200-131741200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:131739200-131741400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:131739200-131741400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:131739200-131741400	Enhancers	HMEC	breast
14	chr8:131739400-131739600	Bivalent Enhancer	Left Ventricle	heart
15	chr8:131739400-131739600	Flanking Active TSS	NH-A	brain
16	chr8:131739400-131739600	Flanking Active TSS	NHLF	lung
17	chr8:131739400-131739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:131739400-131739800	Enhancers	Ovary	ovary
19	chr8:131739400-131739800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:131739400-131740000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:131739400-131740000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:131739400-131740000	Flanking Active TSS	Hela-S3	cervix
23	chr8:131739400-131740000	Flanking Active TSS	HSMMtube	muscle
24	chr8:131739400-131740000	Enhancers	K562	blood
25	chr8:131739400-131740200	Enhancers	Brain Hippocampus Middle	brain
26	chr8:131739400-131740200	Flanking Active TSS	NHDF-Ad	bronchial
27	chr8:131739400-131740400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:131739400-131740400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr8:131739400-131740400	Flanking Active TSS	HUVEC	blood vessel
30	chr8:131739400-131740400	Flanking Active TSS	Osteobl	bone
31	chr8:131739400-131741400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:131739600-131739800	Enhancers	NH-A	brain
33	chr8:131739600-131739800	Enhancers	NHLF	lung
34	chr8:131739600-131740000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:131739600-131740000	Enhancers	Fetal Muscle Leg	muscle
36	chr8:131739600-131740000	Enhancers	Left Ventricle	heart
37	chr8:131739600-131740000	Enhancers	Pancreas	Pancrea
38	chr8:131739600-131740000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:131739600-131740000	Flanking Active TSS	NHEK	skin

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