Variant report

Variant	rs7974916
Chromosome Location	chr12:20754930-20754931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20616975..20617801-chr12:20754475..20755204,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10770674	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045313	0.83[JPT][hapmap];0.80[MEX][hapmap]
rs11045316	0.83[JPT][hapmap]
rs11045326	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045335	1.00[CEU][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11045351	0.91[CEU][hapmap]
rs12318442	0.83[JPT][hapmap];0.86[MEX][hapmap]
rs7314654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs74066212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977226	0.93[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20743600-20756000	Weak transcription	Left Ventricle	heart
2	chr12:20751800-20756000	Enhancers	A549	lung
3	chr12:20752200-20756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:20752200-20766200	Weak transcription	Aorta	Aorta
5	chr12:20753000-20755600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:20753600-20755600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:20753600-20756200	Enhancers	Brain Hippocampus Middle	brain
8	chr12:20753800-20756200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:20754000-20756800	Enhancers	NHDF-Ad	bronchial
10	chr12:20754000-20766200	Weak transcription	Hela-S3	cervix
11	chr12:20754200-20756800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:20754200-20766200	Weak transcription	Right Ventricle	heart
13	chr12:20754400-20755800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr12:20754400-20757800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:20754800-20755600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:20754800-20755600	Enhancers	Fetal Intestine Large	intestine
17	chr12:20754800-20755800	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:20754800-20756400	Enhancers	HUVEC	blood vessel
19	chr12:20754800-20756800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:20754800-20756800	Enhancers	Osteobl	bone

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