Variant report

Variant	rs11782951
Chromosome Location	chr8:131917168-131917169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11774077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs11775974	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11776361	0.97[ASN][1000 genomes]
rs11779492	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11780463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782721	1.00[EUR][1000 genomes]
rs11785068	1.00[JPT][hapmap]
rs11786442	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]
rs17326567	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2376919	0.86[AMR][1000 genomes]
rs28469094	0.91[ASN][1000 genomes]
rs28577976	1.00[ASN][1000 genomes]
rs365538	1.00[JPT][hapmap]
rs4130329	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55864148	0.94[ASN][1000 genomes]
rs57343527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66764905	1.00[ASN][1000 genomes]
rs67290545	0.94[ASN][1000 genomes]
rs67831878	1.00[ASN][1000 genomes]
rs67929083	1.00[ASN][1000 genomes]
rs6985687	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7011132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73346456	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346468	0.94[ASN][1000 genomes]
rs7461303	0.94[ASN][1000 genomes]
rs7461315	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131912400-131917400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:131913600-131920800	Enhancers	NHDF-Ad	bronchial
3	chr8:131914400-131917600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:131914400-131920600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:131915200-131917200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:131915200-131917800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:131915200-131918000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:131915200-131918400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:131915200-131919800	Enhancers	NHLF	lung
10	chr8:131915200-131920400	Enhancers	HMEC	breast
11	chr8:131915200-131920400	Enhancers	HSMM	muscle
12	chr8:131915200-131921200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:131915400-131917800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:131915400-131920200	Enhancers	Osteobl	bone
15	chr8:131915400-131920600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:131915600-131917600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:131915800-131917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:131915800-131919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:131915800-131920800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:131916000-131917200	Enhancers	NH-A	brain
21	chr8:131916000-131917600	Enhancers	Brain Angular Gyrus	brain
22	chr8:131916000-131917800	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:131916000-131920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:131916200-131917400	Enhancers	HUVEC	blood vessel
25	chr8:131916200-131917400	Flanking Active TSS	NHEK	skin
26	chr8:131916400-131917200	Weak transcription	Fetal Heart	heart
27	chr8:131916400-131917600	Enhancers	HSMMtube	muscle
28	chr8:131916600-131917200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:131916800-131917200	Enhancers	A549	lung
30	chr8:131917000-131917800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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