Variant report

Variant	rs71530853
Chromosome Location	chr8:118045821-118045822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10097285	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781136	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781519	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781617	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11990337	0.96[ASN][1000 genomes]
rs12547184	0.81[ASN][1000 genomes]
rs12549895	0.81[ASN][1000 genomes]
rs13251837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253360	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258165	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744897	0.81[ASN][1000 genomes]
rs17744945	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744969	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745004	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17812479	0.81[ASN][1000 genomes]
rs17812503	0.81[ASN][1000 genomes]
rs2938860	0.81[ASN][1000 genomes]
rs963926	1.00[AFR][1000 genomes];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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1032976	chr8:118032075-118065907	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118045000-118046400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:118045000-118046400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:118045000-118046600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:118045200-118046200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:118045200-118046200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:118045200-118046200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:118045200-118046400	Enhancers	HMEC	breast
8	chr8:118045200-118046400	Enhancers	NHEK	skin
9	chr8:118045200-118046800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:118045400-118046000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:118045400-118046200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:118045400-118046200	Enhancers	Dnd41	blood
13	chr8:118045400-118046200	Enhancers	Hela-S3	cervix
14	chr8:118045400-118046200	Enhancers	HSMM	muscle
15	chr8:118045400-118046200	Enhancers	HSMMtube	muscle
16	chr8:118045400-118046400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:118045400-118046400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:118045400-118046400	Enhancers	NHDF-Ad	bronchial
19	chr8:118045600-118046200	Enhancers	NH-A	brain
20	chr8:118045600-118046400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:118045600-118046400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:118045800-118046200	Enhancers	Osteobl	bone
23	chr8:118045800-118050600	Weak transcription	Rectal Smooth Muscle	rectum

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