Variant report

Variant	rs11183489
Chromosome Location	chr12:46842966-46842967
allele	A/G
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	chr12:46831996..46834335-chr12:46842216..46844233,3	MCF-7	breast:
4	chr12:46763691..46766707-chr12:46842064..46844719,4	K562	blood:
5	chr12:46835571..46842966-chr12:46847412..46853177,10	MCF-7	breast:
6	chr12:46841282..46844144-chr12:46852953..46855040,2	K562	blood:
7	chr12:46840761..46844133-chr12:46846897..46850857,3	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11183462	0.94[EUR][1000 genomes]
rs11183463	0.94[EUR][1000 genomes]
rs11183464	0.94[EUR][1000 genomes]
rs11183485	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183497	0.80[EUR][1000 genomes]
rs12298393	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12303084	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12303824	0.80[EUR][1000 genomes]
rs12307205	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9971651	0.83[AMR][1000 genomes];0.96[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:61 , 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	chr12:46834000-46844000	Weak transcription	Esophagus	oesophagus
7	chr12:46834400-46846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:46836800-46844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:46836800-46844200	Weak transcription	NH-A	brain
10	chr12:46837000-46844000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:46837000-46844000	Weak transcription	Osteobl	bone
12	chr12:46837400-46843200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:46837400-46844000	Weak transcription	Gastric	stomach
14	chr12:46837600-46844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:46838600-46843200	Weak transcription	K562	blood
16	chr12:46839200-46843800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:46839200-46844000	Weak transcription	Spleen	Spleen
18	chr12:46839800-46843600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:46839800-46843800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:46839800-46844000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:46839800-46844400	Weak transcription	Small Intestine	intestine
22	chr12:46840000-46843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:46840000-46844000	Weak transcription	Adipose Nuclei	Adipose
24	chr12:46840000-46844200	Weak transcription	Right Ventricle	heart
25	chr12:46840000-46844200	Weak transcription	NHDF-Ad	bronchial
26	chr12:46840600-46843600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:46840600-46843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:46840600-46843800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:46840600-46843800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:46840800-46843000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:46840800-46843000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:46840800-46843000	Weak transcription	Dnd41	blood
33	chr12:46840800-46843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:46840800-46843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:46840800-46843200	Weak transcription	Fetal Kidney	kidney
36	chr12:46840800-46843200	Weak transcription	Right Atrium	heart
37	chr12:46840800-46843600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:46840800-46843600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:46840800-46843600	Weak transcription	Fetal Heart	heart
40	chr12:46840800-46843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:46840800-46843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:46840800-46843800	Weak transcription	HMEC	breast
43	chr12:46840800-46844000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:46840800-46844000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:46840800-46844000	Weak transcription	Fetal Stomach	stomach
46	chr12:46840800-46844000	Weak transcription	Stomach Mucosa	stomach
47	chr12:46840800-46844000	Weak transcription	NHLF	lung
48	chr12:46840800-46844200	Weak transcription	HSMM	muscle
49	chr12:46840800-46847000	Enhancers	HUVEC	blood vessel
50	chr12:46841000-46843800	Weak transcription	A549	lung

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