Variant report

Variant	rs11183503
Chromosome Location	chr12:46878187-46878188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46876888..46879463-chr12:46886100..46887929,2	MCF-7	breast:
2	chr12:46764328..46767954-chr12:46874214..46878193,4	K562	blood:
3	chr12:46765188..46768496-chr12:46877809..46880766,4	MCF-7	breast:
4	chr12:46865500..46867657-chr12:46876148..46878526,2	MCF-7	breast:
5	chr12:46764655..46767393-chr12:46875079..46878516,5	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10748450	0.86[AMR][1000 genomes]
rs10785628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10785629	0.86[AMR][1000 genomes]
rs10880969	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs10880973	0.86[AMR][1000 genomes]
rs10880974	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183456	1.00[CHB][hapmap]
rs11183478	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11183479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11183483	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11183502	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183504	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125909	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11837427	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313929	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12827740	0.82[AMR][1000 genomes]
rs1472178	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2131371	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2252238	0.90[CEU][hapmap]
rs3925101	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3936214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4077707	0.90[AMR][1000 genomes]
rs4077708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4258438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4427617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768709	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768716	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768724	0.86[AMR][1000 genomes]
rs4768725	0.86[AMR][1000 genomes]
rs4768726	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768727	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768728	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768729	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768730	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768733	0.91[CEU][hapmap]
rs6582657	0.86[AMR][1000 genomes]
rs6582658	0.86[AMR][1000 genomes]
rs6582659	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582660	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6582661	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6582663	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7485599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7486915	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7488144	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7488577	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7954645	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7956314	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7960808	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7964767	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7980455	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9706162	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9706460	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9706520	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:46865400-46879200	Weak transcription	Right Ventricle	heart
3	chr12:46868000-46881200	Weak transcription	GM12878-XiMat	blood
4	chr12:46868000-46883200	Weak transcription	Fetal Heart	heart
5	chr12:46868200-46879200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:46868600-46883000	Weak transcription	Left Ventricle	heart
7	chr12:46868600-46883400	Weak transcription	Psoas Muscle	Psoas
8	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:46868800-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:46868800-46886000	Weak transcription	HSMMtube	muscle
11	chr12:46870400-46880400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:46871200-46887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:46873000-46880400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:46873600-46886000	Weak transcription	HSMM	muscle
15	chr12:46874000-46880400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:46874800-46883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:46875600-46878800	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:46875800-46878200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:46875800-46878200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:46875800-46878800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:46876000-46878600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:46876000-46878600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:46876000-46879200	Enhancers	Hela-S3	cervix
24	chr12:46876200-46878600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:46876400-46878200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:46876400-46878200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:46876400-46878200	Enhancers	A549	lung
28	chr12:46876400-46878800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:46876400-46879400	Enhancers	K562	blood
30	chr12:46876600-46880400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:46876800-46878200	Enhancers	Osteobl	bone
32	chr12:46877200-46878200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:46877200-46878200	Enhancers	NHDF-Ad	bronchial
34	chr12:46877400-46878200	Enhancers	Liver	Liver
35	chr12:46877400-46878200	Enhancers	Fetal Intestine Small	intestine
36	chr12:46877400-46878200	Flanking Active TSS	HepG2	liver
37	chr12:46877400-46878200	Enhancers	HMEC	breast
38	chr12:46877400-46878200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:46877400-46878400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:46877400-46878600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:46877400-46878600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:46877600-46878200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr12:46877600-46878200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:46877600-46878200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:46877600-46878200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:46877600-46878200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:46877600-46878200	Enhancers	Placenta	Placenta
48	chr12:46877600-46878200	Enhancers	Ovary	ovary
49	chr12:46877600-46878200	Enhancers	NHLF	lung
50	chr12:46877600-46878400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links