Variant report

Variant	rs11183487
Chromosome Location	chr12:46840731-46840732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46765015..46767501-chr12:46840652..46844110,3	MCF-7	breast:
2	chr12:46835538..46838564-chr12:46838793..46843578,4	MCF-7	breast:
3	chr12:46839274..46841469-chr12:46940549..46942826,2	K562	blood:
4	chr12:46835571..46842966-chr12:46847412..46853177,10	MCF-7	breast:
5	chr12:46762033..46769988-chr12:46831671..46842896,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11183454	1.00[AMR][1000 genomes]
rs11183467	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11183482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1125908	1.00[AMR][1000 genomes]
rs11830080	1.00[EUR][1000 genomes]
rs11834905	1.00[AMR][1000 genomes]
rs11837634	1.00[EUR][1000 genomes]
rs12299499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12317255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321512	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12321642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12322378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13377959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17096884	1.00[AMR][1000 genomes]
rs17096896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17096922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2085682	1.00[EUR][1000 genomes]
rs34280632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35875247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36010856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742061	1.00[AMR][1000 genomes]
rs56036156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160202	1.00[EUR][1000 genomes]
rs56196954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56314009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57425661	1.00[AMR][1000 genomes]
rs58460251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58890669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59608605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60565802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60878594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61406609	1.00[AMR][1000 genomes]
rs73282591	1.00[AMR][1000 genomes]
rs73290315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[EUR][1000 genomes]
rs74082254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74082263	1.00[EUR][1000 genomes]
rs74082274	1.00[EUR][1000 genomes]
rs74083758	1.00[EUR][1000 genomes]
rs7488027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7954314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7967889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977319	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs923788	1.00[AMR][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	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:46825400-46844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:46825600-46843800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:46831200-46843200	Weak transcription	Left Ventricle	heart
6	chr12:46833600-46840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:46834000-46844000	Weak transcription	Esophagus	oesophagus
8	chr12:46834400-46846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:46835600-46840800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:46836600-46840800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:46836600-46840800	Enhancers	HMEC	breast
12	chr12:46836800-46844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:46836800-46844200	Weak transcription	NH-A	brain
14	chr12:46837000-46840800	Enhancers	Liver	Liver
15	chr12:46837000-46841400	Enhancers	NHEK	skin
16	chr12:46837000-46844000	Weak transcription	Fetal Intestine Small	intestine
17	chr12:46837000-46844000	Weak transcription	Osteobl	bone
18	chr12:46837200-46840800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:46837200-46841400	Enhancers	Hela-S3	cervix
20	chr12:46837400-46840800	Enhancers	HepG2	liver
21	chr12:46837400-46843200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:46837400-46844000	Weak transcription	Gastric	stomach
23	chr12:46837600-46844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:46837800-46840800	Enhancers	Fetal Kidney	kidney
25	chr12:46838400-46840800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:46838600-46843200	Weak transcription	K562	blood
27	chr12:46838800-46840800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:46838800-46840800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:46838800-46840800	Enhancers	Dnd41	blood
30	chr12:46839000-46840800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:46839000-46840800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:46839000-46840800	Enhancers	Stomach Mucosa	stomach
33	chr12:46839000-46840800	Enhancers	HSMM	muscle
34	chr12:46839000-46841200	Enhancers	Fetal Lung	lung
35	chr12:46839200-46840800	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:46839200-46843800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:46839200-46844000	Weak transcription	Spleen	Spleen
38	chr12:46839600-46840800	Enhancers	Fetal Heart	heart
39	chr12:46839800-46841000	Enhancers	A549	lung
40	chr12:46839800-46841800	Weak transcription	Psoas Muscle	Psoas
41	chr12:46839800-46843600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:46839800-46843800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:46839800-46844000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:46839800-46844400	Weak transcription	Small Intestine	intestine
45	chr12:46840000-46841200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:46840000-46842800	Weak transcription	Primary T cells from cord blood	blood
47	chr12:46840000-46843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:46840000-46844000	Weak transcription	Adipose Nuclei	Adipose
49	chr12:46840000-46844200	Weak transcription	Right Ventricle	heart
50	chr12:46840000-46844200	Weak transcription	NHDF-Ad	bronchial

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