Variant report

Variant	rs11047885
Chromosome Location	chr12:25342630-25342631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25339080..25340582-chr12:25340786..25343717,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10505959	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap]
rs10743548	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771166	0.85[CHB][hapmap]
rs10771174	0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs10771175	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs10771176	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs10771183	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842464	0.85[CHB][hapmap]
rs10842468	0.90[JPT][hapmap]
rs10842470	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10842490	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10842495	0.82[AMR][1000 genomes]
rs10842496	1.00[YRI][hapmap]
rs10842503	0.88[ASN][1000 genomes]
rs10842515	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842516	0.95[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842517	0.95[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11047825	0.85[CHB][hapmap];0.84[YRI][hapmap]
rs11047858	0.81[JPT][hapmap];0.93[YRI][hapmap]
rs11047878	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11047879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11047903	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047904	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047908	0.90[ASN][1000 genomes]
rs11047912	1.00[JPT][hapmap]
rs11047914	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11047917	0.91[JPT][hapmap]
rs1137282	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834088	0.85[CHB][hapmap]
rs11836509	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227966	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12228638	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12367971	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17388573	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17388587	1.00[JPT][hapmap]
rs17389103	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2220196	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3924650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4313666	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4368021	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4606562	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4963859	0.82[JPT][hapmap]
rs55950027	0.81[AMR][1000 genomes]
rs61761150	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61762422	0.81[ASN][1000 genomes]
rs7133640	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7134616	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7298444	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7298636	1.00[YRI][hapmap]
rs7303373	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs7303669	1.00[CHB][hapmap]
rs7308865	1.00[YRI][hapmap]
rs7309670	0.87[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7315339	1.00[JPT][hapmap]
rs7956818	1.00[YRI][hapmap]
rs7960428	0.84[CHB][hapmap];0.92[YRI][hapmap]
rs7960917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968023	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7971062	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs7971288	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7973450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973623	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975271	1.00[CHB][hapmap]
rs7976254	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7976355	0.85[JPT][hapmap]
rs7977616	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7980834	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634100	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25339800-25343000	Enhancers	Osteobl	bone
2	chr12:25339800-25343200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:25340000-25342800	Enhancers	NH-A	brain
4	chr12:25340000-25342800	Enhancers	NHDF-Ad	bronchial
5	chr12:25340000-25343000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:25340000-25343000	Enhancers	NHLF	lung
7	chr12:25340200-25347400	Weak transcription	Liver	Liver
8	chr12:25340600-25342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:25341000-25347200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:25341000-25347200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:25341000-25347400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:25341000-25347400	Weak transcription	HMEC	breast
13	chr12:25341200-25346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:25341200-25347400	Weak transcription	NHEK	skin
15	chr12:25341400-25347600	Weak transcription	HSMMtube	muscle
16	chr12:25341800-25347400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:25342000-25347200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:25342000-25347400	Weak transcription	A549	lung
19	chr12:25342400-25342800	Enhancers	Hela-S3	cervix
20	chr12:25342400-25347200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:25342400-25347600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:25342600-25347000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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