Variant report

Variant	rs7134150
Chromosome Location	chr12:20591332-20591333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11045247	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045248	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12314390	0.81[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs73239573	1.00[ASN][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20568600-20595400	Weak transcription	Pancreas	Pancrea
2	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
3	chr12:20578800-20597000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:20583800-20592400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:20587600-20592200	Enhancers	Osteobl	bone
6	chr12:20587600-20599000	Weak transcription	Right Atrium	heart
7	chr12:20587800-20596600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:20588000-20591400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:20588000-20592000	Enhancers	HUVEC	blood vessel
10	chr12:20588200-20591600	Genic enhancers	Hela-S3	cervix
11	chr12:20588200-20618400	Weak transcription	Ovary	ovary
12	chr12:20589000-20593600	Enhancers	Colon Smooth Muscle	Colon
13	chr12:20589200-20596800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:20589200-20597800	Weak transcription	Aorta	Aorta
15	chr12:20589400-20603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:20589600-20596800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:20589800-20595400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:20590600-20592000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:20590600-20592000	Enhancers	Fetal Stomach	stomach
20	chr12:20590800-20592000	Enhancers	Right Ventricle	heart
21	chr12:20590800-20592800	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:20590800-20593600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:20590800-20594000	Enhancers	Adipose Nuclei	Adipose
24	chr12:20590800-20597600	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:20591000-20591400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:20591000-20591400	Enhancers	Fetal Intestine Large	intestine
27	chr12:20591000-20591600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:20591000-20592200	Enhancers	NHLF	lung
29	chr12:20591200-20591400	Enhancers	NHDF-Ad	bronchial
30	chr12:20591200-20591600	Enhancers	Fetal Lung	lung
31	chr12:20591200-20592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:20591200-20593200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:20591200-20593400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:20591200-20596600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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