Variant report

Variant	rs12426684
Chromosome Location	chr12:25307566-25307567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25102240..25104571-chr12:25306808..25309937,3	K562	blood:

Variant related genes	Relation type
ENSG00000060982	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10743538	0.81[ASN][1000 genomes]
rs11047809	1.00[JPT][hapmap]
rs11047810	1.00[JPT][hapmap]
rs11047812	1.00[JPT][hapmap]
rs11047826	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11047837	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11047842	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11047845	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11047857	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11531007	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12228408	0.89[EUR][1000 genomes]
rs12229161	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12229450	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423047	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423778	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427119	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12427150	0.94[EUR][1000 genomes]
rs17326292	1.00[JPT][hapmap]
rs17387444	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291364	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306701	1.00[JPT][hapmap]
rs3782188	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4441109	0.90[ASN][1000 genomes]
rs4963601	1.00[JPT][hapmap]
rs4963852	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4963853	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56024196	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73069103	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73069105	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73071272	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73077316	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73077322	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73079611	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73079683	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73081704	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7973851	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr12:25304600-25315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:25305000-25308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:25305200-25307600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:25305200-25307800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:25305200-25307800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:25305200-25307800	Weak transcription	NHDF-Ad	bronchial
7	chr12:25305200-25308000	Weak transcription	A549	lung
8	chr12:25305200-25308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:25305400-25307800	Weak transcription	NHEK	skin
10	chr12:25305400-25308000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:25305400-25308000	Weak transcription	Fetal Lung	lung
12	chr12:25305400-25308000	Weak transcription	Hela-S3	cervix
13	chr12:25305600-25308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:25305800-25307800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:25305800-25308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:25305800-25308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:25306800-25307600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:25307000-25307600	Enhancers	GM12878-XiMat	blood
19	chr12:25307200-25311600	Enhancers	Primary B cells from cord blood	blood
20	chr12:25307200-25312200	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:25307400-25308600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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