Variant report

Variant	rs2307026
Chromosome Location	chr12:21997121-21997122
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11046192	0.83[EUR][1000 genomes]
rs11046196	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11046198	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11046199	0.90[EUR][1000 genomes]
rs11046200	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs11046204	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046205	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11046206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046211	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12367996	1.00[ASN][1000 genomes]
rs12369421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12370561	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12371172	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58291806	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73070684	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73070702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074912	0.90[EUR][1000 genomes]
rs73074914	0.90[EUR][1000 genomes]
rs829076	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:21980600-22002800	Weak transcription	Fetal Heart	heart
4	chr12:21983600-22002800	Strong transcription	Liver	Liver
5	chr12:21983800-22002000	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:21983800-22003000	Weak transcription	Pancreas	Pancrea
7	chr12:21985000-22003000	Weak transcription	Right Ventricle	heart
8	chr12:21985400-22005000	Weak transcription	NHLF	lung
9	chr12:21985600-22002800	Weak transcription	Fetal Lung	lung
10	chr12:21985800-22004800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:21992200-21997800	Weak transcription	Left Ventricle	heart
12	chr12:21992400-21997400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:21993000-21997600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:21994600-21999000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:21994800-21997600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:21995400-22003200	Weak transcription	Adipose Nuclei	Adipose
17	chr12:21995600-22004400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:21995600-22022200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:21995800-22022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:21996600-21998000	Strong transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links