Variant report

Variant	rs7011212
Chromosome Location	chr8:49228626-49228627
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11778583	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11778932	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782777	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11786911	0.89[ASN][1000 genomes]
rs13251743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1397549	0.90[EUR][1000 genomes]
rs7828724	0.90[EUR][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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49222400-49231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:49224400-49231000	Weak transcription	Ovary	ovary
3	chr8:49225800-49231400	Enhancers	Fetal Stomach	stomach
4	chr8:49226600-49231000	Weak transcription	Gastric	stomach
5	chr8:49226600-49231400	Weak transcription	Fetal Kidney	kidney
6	chr8:49226600-49231600	Weak transcription	Pancreas	Pancrea
7	chr8:49227000-49231200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:49227200-49231400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:49227400-49229400	Enhancers	NHEK	skin
10	chr8:49227400-49231000	Enhancers	NHDF-Ad	bronchial
11	chr8:49227400-49231200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:49227400-49231200	Enhancers	NHLF	lung
13	chr8:49227400-49231400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:49227600-49228800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:49227600-49228800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:49227600-49228800	Weak transcription	NH-A	brain
17	chr8:49227600-49229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:49227600-49231000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:49227600-49231200	Enhancers	HMEC	breast
20	chr8:49227800-49229000	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:49227800-49230200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:49227800-49231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:49227800-49233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:49228000-49231000	Weak transcription	Placenta	Placenta
25	chr8:49228000-49234200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:49228200-49231400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:49228600-49229600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:49228600-49230400	Enhancers	Esophagus	oesophagus
29	chr8:49228600-49231000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:49228600-49231000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:49228600-49231000	Enhancers	Fetal Lung	lung
32	chr8:49228600-49231200	Enhancers	HSMM	muscle
33	chr8:49228600-49233400	Enhancers	Placenta Amnion	Placenta Amnion

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