Variant report

Variant	rs12580994
Chromosome Location	chr12:72914197-72914198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10082721	0.95[ASN][1000 genomes]
rs11179206	0.86[CEU][hapmap]
rs11179209	0.86[CEU][hapmap]
rs11179213	0.86[CEU][hapmap]
rs11179215	0.86[CEU][hapmap]
rs11179218	0.86[CEU][hapmap]
rs11179238	1.00[ASN][1000 genomes]
rs11179241	1.00[ASN][1000 genomes]
rs11179243	0.95[ASN][1000 genomes]
rs12296702	0.86[CEU][hapmap]
rs12301142	0.86[CEU][hapmap]
rs12304721	0.86[CEU][hapmap]
rs12305935	0.86[CEU][hapmap]
rs12311242	0.86[CEU][hapmap]
rs12311567	0.86[CEU][hapmap]
rs12311646	0.86[CEU][hapmap]
rs12318484	0.86[CEU][hapmap]
rs12422568	1.00[ASN][1000 genomes]
rs12424413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12578451	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580321	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582865	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs17111159	0.86[CEU][hapmap]
rs17111172	0.86[CEU][hapmap]
rs17111176	0.86[CEU][hapmap]
rs17111190	0.82[CEU][hapmap]
rs17111210	0.86[CEU][hapmap]
rs17741682	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17742263	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17797186	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17797841	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2293653	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3782364	1.00[CHB][hapmap]
rs4387391	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs55658221	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs56285747	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997590	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	nsv832453	chr12:72778058-72966827	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv817280	chr12:72820558-73508605	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv899259	chr12:72885554-73011367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72906000-72917200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:72913600-72914600	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links