Variant report

Variant	rs11045324
Chromosome Location	chr12:20752797-20752798
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20746557..20749139-chr12:20752531..20754489,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11045336	0.86[CEU][hapmap];0.91[MEX][hapmap]
rs12320894	0.82[ASN][1000 genomes]
rs4359258	0.91[MEX][hapmap]
rs4393371	0.86[CEU][hapmap]
rs4397903	0.85[LWK][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap]
rs4609649	0.90[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs55729847	0.88[ASN][1000 genomes]
rs73076973	0.83[ASN][1000 genomes]
rs73076989	0.83[ASN][1000 genomes]
rs73080739	0.83[AMR][1000 genomes]
rs7953797	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7961708	0.83[ASN][1000 genomes]
rs7968002	0.86[CEU][hapmap]
rs7975835	0.86[ASN][1000 genomes]
rs7977337	0.86[CEU][hapmap];0.80[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	chr12:20710400-20754800	Weak transcription	Fetal Intestine Large	intestine
2	chr12:20742600-20753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:20743600-20756000	Weak transcription	Left Ventricle	heart
4	chr12:20746400-20754600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:20751600-20752800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:20751800-20754000	Enhancers	Hela-S3	cervix
7	chr12:20751800-20756000	Enhancers	A549	lung
8	chr12:20752000-20753200	Enhancers	Osteobl	bone
9	chr12:20752000-20753400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:20752200-20753200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr12:20752200-20753400	Weak transcription	Right Ventricle	heart
12	chr12:20752200-20753600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:20752200-20754400	Enhancers	Colon Smooth Muscle	Colon
14	chr12:20752200-20756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:20752200-20766200	Weak transcription	Aorta	Aorta
16	chr12:20752400-20753000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:20752400-20753400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:20752600-20752800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr12:20752600-20753200	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:20752600-20753600	Enhancers	NHDF-Ad	bronchial

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