Variant report

Variant	rs12831974
Chromosome Location	chr12:72724034-72724035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10879402	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs10879403	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs10879404	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[ASN][1000 genomes]
rs10879405	0.93[ASN][1000 genomes]
rs11179152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11179156	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs11179159	0.93[ASN][1000 genomes]
rs11179160	0.94[ASN][1000 genomes]
rs11179161	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs11179162	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs11179163	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs11179164	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12161797	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs12161817	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs12161818	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12231372	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12231988	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs12820144	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12820473	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12820527	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs35567773	0.93[ASN][1000 genomes]
rs4628722	0.93[ASN][1000 genomes]
rs4760761	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs4760763	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs4760764	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs7970417	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs7970424	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs7970708	0.94[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	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832452	chr12:72584971-72764495	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv899258	chr12:72624088-72957899	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv469465	chr12:72655925-73259114	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv559363	chr12:72655925-73259114	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv868884	chr12:72664763-73241518	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Rheumatoid arthritis	21452313	GWAS catalog

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72713400-72738400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:72723600-72724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:72723600-72725000	Enhancers	Psoas Muscle	Psoas
4	chr12:72723600-72725400	Enhancers	Fetal Kidney	kidney
5	chr12:72723800-72724200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:72723800-72724200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:72723800-72724200	Active TSS	Ovary	ovary
8	chr12:72723800-72724400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:72723800-72724400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:72723800-72724400	Active TSS	Brain Anterior Caudate	brain
11	chr12:72723800-72724400	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr12:72723800-72724400	Active TSS	Osteobl	bone
13	chr12:72723800-72724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:72723800-72724800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:72724000-72724200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:72724000-72724200	Active TSS	Brain Hippocampus Middle	brain
17	chr12:72724000-72724400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:72724000-72724400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:72724000-72724400	Active TSS	Adipose Nuclei	Adipose

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