Variant report

Variant	rs11183507
Chromosome Location	chr12:46884440-46884441
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46884144..46886500-chr12:46886690..46889516,2	K562	blood:
2	chr12:46881119..46884848-chr12:46886427..46890898,4	K562	blood:
3	chr12:46759647..46768800-chr12:46881212..46889672,42	MCF-7	breast:
4	chr12:46775174..46780982-chr12:46884437..46889035,12	MCF-7	breast:
5	chr12:46754936..46756795-chr12:46883814..46885490,2	K562	blood:
6	chr12:46832724..46834258-chr12:46883859..46885941,2	MCF-7	breast:
7	chr12:46761219..46768367-chr12:46884244..46889425,20	MCF-7	breast:
8	chr12:46865786..46868659-chr12:46883028..46885506,2	MCF-7	breast:
9	chr12:46773608..46782926-chr12:46881237..46891957,39	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000257496	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10785631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10880975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880976	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880977	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880980	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183497	0.81[EUR][1000 genomes]
rs11183536	0.84[AMR][1000 genomes]
rs11504523	1.00[EUR][1000 genomes]
rs11829502	0.84[EUR][1000 genomes]
rs11830099	0.82[EUR][1000 genomes]
rs11830501	0.82[EUR][1000 genomes]
rs11831177	1.00[EUR][1000 genomes]
rs11831920	0.82[EUR][1000 genomes]
rs11831929	0.82[EUR][1000 genomes]
rs11832316	0.82[EUR][1000 genomes]
rs11835517	0.82[EUR][1000 genomes]
rs11835974	0.82[EUR][1000 genomes]
rs11836915	0.85[EUR][1000 genomes]
rs11836940	0.82[EUR][1000 genomes]
rs11837104	0.82[EUR][1000 genomes]
rs12300125	0.87[AMR][1000 genomes]
rs12303824	0.81[EUR][1000 genomes]
rs12579348	0.82[EUR][1000 genomes]
rs12579976	0.82[EUR][1000 genomes]
rs12580121	0.89[EUR][1000 genomes]
rs17096995	0.82[EUR][1000 genomes]
rs17097009	0.82[EUR][1000 genomes]
rs17097022	0.82[EUR][1000 genomes]
rs17121412	0.82[EUR][1000 genomes]
rs1946175	0.90[AMR][1000 genomes]
rs2193662	0.83[AMR][1000 genomes]
rs2193663	0.82[EUR][1000 genomes]
rs2408576	0.82[EUR][1000 genomes]
rs2408577	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2430940	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2430946	0.82[EUR][1000 genomes]
rs2471581	0.85[EUR][1000 genomes]
rs2471583	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2471601	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4073924	0.85[EUR][1000 genomes]
rs4604970	0.82[EUR][1000 genomes]
rs4768125	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4768731	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56152575	0.82[EUR][1000 genomes]
rs56181923	0.82[EUR][1000 genomes]
rs56271434	0.82[EUR][1000 genomes]
rs56399247	0.85[EUR][1000 genomes]
rs57158113	0.85[EUR][1000 genomes]
rs57439008	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58449317	0.82[EUR][1000 genomes]
rs58503088	0.82[EUR][1000 genomes]
rs58813899	0.82[EUR][1000 genomes]
rs59521025	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59903937	0.82[EUR][1000 genomes]
rs60432604	0.85[EUR][1000 genomes]
rs60669661	0.82[EUR][1000 genomes]
rs60681792	0.82[EUR][1000 genomes]
rs6582666	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7138914	0.82[EUR][1000 genomes]
rs7295471	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302876	0.84[EUR][1000 genomes]
rs7308386	0.82[EUR][1000 genomes]
rs73290364	0.96[EUR][1000 genomes]
rs73290381	0.85[EUR][1000 genomes]
rs73290402	0.82[EUR][1000 genomes]
rs73291964	0.82[EUR][1000 genomes]
rs73291976	0.82[EUR][1000 genomes]
rs73291980	0.82[EUR][1000 genomes]
rs73292000	0.82[EUR][1000 genomes]
rs73293911	0.82[EUR][1000 genomes]
rs73293919	0.82[EUR][1000 genomes]
rs74085431	1.00[EUR][1000 genomes]
rs765707	0.82[EUR][1000 genomes]
rs7976710	0.82[EUR][1000 genomes]
rs9783500	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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:57 , 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	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:46868800-46886000	Weak transcription	HSMMtube	muscle
4	chr12:46871200-46887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:46873600-46886000	Weak transcription	HSMM	muscle
6	chr12:46878000-46885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:46878000-46887400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:46878200-46886600	Enhancers	HepG2	liver
9	chr12:46878200-46887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:46878600-46886000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:46880000-46886000	Weak transcription	Right Ventricle	heart
12	chr12:46880600-46888600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:46881000-46885200	Weak transcription	Placenta	Placenta
14	chr12:46881800-46888000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:46882400-46888600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:46882600-46886400	Enhancers	Hela-S3	cervix
17	chr12:46882600-46889600	Weak transcription	Primary B cells from cord blood	blood
18	chr12:46882800-46894200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:46883000-46884800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:46883000-46884800	Enhancers	Left Ventricle	heart
21	chr12:46883000-46885800	Enhancers	A549	lung
22	chr12:46883000-46886800	Enhancers	Ovary	ovary
23	chr12:46883000-46888800	Enhancers	HMEC	breast
24	chr12:46883200-46884600	Enhancers	Fetal Lung	lung
25	chr12:46883200-46884800	Enhancers	Fetal Heart	heart
26	chr12:46883200-46885000	Enhancers	Stomach Mucosa	stomach
27	chr12:46883200-46885000	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:46883200-46886000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:46883200-46886600	Enhancers	NHLF	lung
30	chr12:46883200-46886800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:46883200-46887800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:46883200-46889000	Enhancers	NHEK	skin
33	chr12:46883400-46884600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:46883400-46884800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:46883400-46884800	Enhancers	Liver	Liver
36	chr12:46883400-46884800	Enhancers	Colon Smooth Muscle	Colon
37	chr12:46883400-46885000	Enhancers	Adipose Nuclei	Adipose
38	chr12:46883400-46885200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:46883400-46886800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:46883400-46887600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:46883400-46887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:46883400-46888800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:46883800-46885000	Enhancers	NHDF-Ad	bronchial
44	chr12:46883800-46886000	Enhancers	HUVEC	blood vessel
45	chr12:46883800-46886600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:46883800-46887400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:46884000-46886800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:46884000-46888200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:46884200-46886000	Weak transcription	Psoas Muscle	Psoas
50	chr12:46884200-46886400	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links