Variant report

Variant	rs7973420
Chromosome Location	chr12:20641764-20641765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10047560	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743375	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743376	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314380	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809512	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822543	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34047692	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521901	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751737	1.00[ASN][1000 genomes]
rs57181023	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57609359	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58978231	0.99[AFR][1000 genomes]
rs59656175	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60526859	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61338273	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61553836	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61596305	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304649	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313578	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
3	chr12:20628600-20644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20632800-20647200	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20637000-20642800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:20637200-20643200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:20638600-20642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:20639400-20643000	Enhancers	A549	lung
9	chr12:20639800-20645200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:20639800-20645200	Weak transcription	Right Atrium	heart
11	chr12:20639800-20648200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:20640200-20644800	Weak transcription	HUVEC	blood vessel
13	chr12:20640400-20642800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:20640400-20643200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:20640400-20643200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:20641000-20641800	Enhancers	Aorta	Aorta
17	chr12:20641000-20642400	Enhancers	Brain Substantia Nigra	brain
18	chr12:20641000-20642400	Strong transcription	Fetal Intestine Large	intestine
19	chr12:20641000-20642600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:20641200-20642800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:20641200-20645400	Weak transcription	NHLF	lung
22	chr12:20641400-20641800	Strong transcription	Fetal Intestine Small	intestine
23	chr12:20641400-20642200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:20641400-20642600	Weak transcription	NHDF-Ad	bronchial
25	chr12:20641400-20643000	Enhancers	Left Ventricle	heart
26	chr12:20641600-20642600	Weak transcription	Hela-S3	cervix
27	chr12:20641600-20642600	Weak transcription	Osteobl	bone

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