Variant report

Variant	rs12832108
Chromosome Location	chr12:20661501-20661502
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11613220	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762759	1.00[CHB][hapmap]
rs4762764	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4762968	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4762973	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6487099	0.90[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7134968	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295612	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7303852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73233912	0.87[ASN][1000 genomes]
rs7484304	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs7487227	0.91[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7489188	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7953905	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7977362	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20647200-20664000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:20649600-20662000	Weak transcription	Pancreas	Pancrea
3	chr12:20660000-20665000	Strong transcription	Hela-S3	cervix
4	chr12:20660400-20662200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:20660400-20664600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:20660800-20666600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:20660800-20667600	Weak transcription	Fetal Heart	heart
8	chr12:20660800-20672800	Weak transcription	Fetal Intestine Large	intestine
9	chr12:20661000-20662000	Weak transcription	NHLF	lung
10	chr12:20661000-20662000	Enhancers	Osteobl	bone
11	chr12:20661000-20662400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:20661000-20662600	Enhancers	A549	lung
13	chr12:20661200-20662000	Weak transcription	Left Ventricle	heart
14	chr12:20661200-20662000	Weak transcription	Right Ventricle	heart
15	chr12:20661200-20667600	Weak transcription	Aorta	Aorta
16	chr12:20661200-20673200	Weak transcription	NHDF-Ad	bronchial
17	chr12:20661400-20661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:20661400-20661800	Weak transcription	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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