Variant report

Variant	rs57181023
Chromosome Location	chr12:20672010-20672011
allele	C/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:20)

rs_ID	r²[population]
rs10047560	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743375	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743376	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314380	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809512	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822543	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34047692	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521901	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751737	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57609359	1.00[ASN][1000 genomes]
rs59656175	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60526859	1.00[ASN][1000 genomes]
rs61338273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61553836	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61596305	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137427	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304649	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312861	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313578	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973420	0.86[EUR][1000 genomes];1.00[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	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	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20660800-20672800	Weak transcription	Fetal Intestine Large	intestine
2	chr12:20661200-20673200	Weak transcription	NHDF-Ad	bronchial
3	chr12:20662400-20674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:20664400-20672200	Weak transcription	Left Ventricle	heart
5	chr12:20667400-20673800	Weak transcription	A549	lung
6	chr12:20667600-20680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:20668200-20673600	Weak transcription	Aorta	Aorta
8	chr12:20670200-20673200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:20670600-20674600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:20670800-20679400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:20671000-20672600	Weak transcription	Right Ventricle	heart
12	chr12:20671000-20672800	Weak transcription	Right Atrium	heart
13	chr12:20671000-20675600	Weak transcription	Osteobl	bone
14	chr12:20671000-20679800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:20671400-20673000	Weak transcription	Ovary	ovary
16	chr12:20671800-20674800	Strong transcription	Hela-S3	cervix

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