Variant report

Variant	rs11180704
Chromosome Location	chr12:76225334-76225335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76218050..76221140-chr12:76222385..76226289,4	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10431516	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431517	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10431594	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431595	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180692	0.89[JPT][hapmap]
rs11180693	0.89[JPT][hapmap]
rs11180698	0.96[EUR][1000 genomes]
rs11180699	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180700	0.96[EUR][1000 genomes]
rs11180702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11180708	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180715	0.96[ASN][1000 genomes]
rs11180717	0.96[ASN][1000 genomes]
rs11180718	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1275563	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12809551	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12810244	0.90[ASN][1000 genomes]
rs12819031	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12822358	0.94[ASN][1000 genomes]
rs12827587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12831736	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532294	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565771	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115738	0.89[JPT][hapmap]
rs17115780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34148649	0.87[EUR][1000 genomes]
rs34198570	0.84[EUR][1000 genomes]
rs35319713	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35906325	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35916241	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531531	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71460148	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71460149	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937245	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv826440	chr12:76224278-76230703	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 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	chr12:76220400-76230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:76221200-76228200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:76221600-76228200	Weak transcription	NHEK	skin
4	chr12:76224400-76225800	Enhancers	Fetal Lung	lung
5	chr12:76225000-76225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:76225000-76225600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:76225000-76225600	Enhancers	NHDF-Ad	bronchial
8	chr12:76225000-76225800	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:76225000-76226000	Enhancers	Fetal Heart	heart
10	chr12:76225000-76226400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:76225200-76225600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:76225200-76225600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:76225200-76225600	Enhancers	Ovary	ovary
14	chr12:76225200-76225600	Enhancers	Stomach Mucosa	stomach
15	chr12:76225200-76225600	Enhancers	Hela-S3	cervix
16	chr12:76225200-76225600	Enhancers	HepG2	liver
17	chr12:76225200-76225600	Enhancers	HUVEC	blood vessel
18	chr12:76225200-76225600	Enhancers	K562	blood
19	chr12:76225200-76225600	Enhancers	NH-A	brain
20	chr12:76225200-76225600	Enhancers	Osteobl	bone
21	chr12:76225200-76226800	Enhancers	NHLF	lung

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