Variant report

Variant	rs12361632
Chromosome Location	chr11:120215843-120215844
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120208495..120210605-chr11:120212464..120216730,4	MCF-7	breast:
2	chr11:120205774..120210534-chr11:120211635..120216657,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10502235	0.98[ASN][1000 genomes]
rs10750172	0.86[EUR][1000 genomes]
rs10750173	0.83[EUR][1000 genomes]
rs10750174	0.83[EUR][1000 genomes]
rs10790378	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10790380	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10790382	0.83[EUR][1000 genomes]
rs10892562	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10892563	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892564	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892566	0.87[EUR][1000 genomes]
rs10892567	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10892570	0.84[EUR][1000 genomes]
rs10892574	0.83[EUR][1000 genomes]
rs10892576	0.83[EUR][1000 genomes]
rs11217821	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11217840	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11217841	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11217852	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11600703	0.86[EUR][1000 genomes]
rs11823300	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11824032	0.90[ASN][1000 genomes]
rs11827818	0.97[ASN][1000 genomes]
rs12417581	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12420378	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12785387	0.92[ASN][1000 genomes]
rs12787285	0.92[EUR][1000 genomes]
rs12806740	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1812974	0.92[ASN][1000 genomes]
rs1892894	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1893261	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34298380	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36011588	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4381380	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4539328	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4936517	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4938799	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4938801	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938802	0.90[ASN][1000 genomes]
rs4938804	0.85[EUR][1000 genomes]
rs4938805	0.84[EUR][1000 genomes]
rs4938806	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61898351	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6589810	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6589811	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6589812	0.85[EUR][1000 genomes]
rs6589813	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7101415	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7104639	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7107211	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7115714	0.82[EUR][1000 genomes]
rs7117063	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7117321	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7118391	0.85[EUR][1000 genomes]
rs7121779	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7126328	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7126413	0.88[EUR][1000 genomes]
rs7131046	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7478880	0.85[EUR][1000 genomes]
rs7924772	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7924963	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7924975	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7932037	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7932658	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7933086	0.84[EUR][1000 genomes]
rs7937612	0.85[EUR][1000 genomes]
rs7948928	0.85[EUR][1000 genomes]
rs7952529	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9633919	0.86[EUR][1000 genomes]
rs9633950	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120208800-120216200	Weak transcription	Esophagus	oesophagus
2	chr11:120208800-120223400	Weak transcription	Gastric	stomach
3	chr11:120209000-120217000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:120209600-120216200	Weak transcription	Lung	lung
5	chr11:120209600-120224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:120210600-120217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:120210600-120217000	Weak transcription	Pancreas	Pancrea
8	chr11:120210600-120218200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:120211000-120217000	Weak transcription	Colonic Mucosa	Colon
10	chr11:120211000-120217000	Weak transcription	Fetal Brain Male	brain
11	chr11:120211000-120217000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:120211000-120217400	Enhancers	Liver	Liver
13	chr11:120211000-120218600	Enhancers	Fetal Heart	heart
14	chr11:120211000-120224400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:120211200-120218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:120211400-120217600	Weak transcription	Brain Germinal Matrix	brain
17	chr11:120211600-120219000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:120211600-120224400	Weak transcription	A549	lung
19	chr11:120211800-120217600	Enhancers	NHLF	lung
20	chr11:120212000-120216800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:120212800-120217400	Enhancers	K562	blood
22	chr11:120213000-120218000	Enhancers	Rectal Smooth Muscle	rectum
23	chr11:120213400-120216000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr11:120213400-120217000	Weak transcription	Aorta	Aorta
25	chr11:120213800-120216000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:120213800-120216000	Enhancers	Brain Hippocampus Middle	brain
27	chr11:120213800-120217000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:120213800-120224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:120214000-120216000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:120214000-120216400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr11:120214000-120216400	Enhancers	Ovary	ovary
32	chr11:120214000-120217800	Enhancers	Colon Smooth Muscle	Colon
33	chr11:120214000-120218600	Enhancers	Adipose Nuclei	Adipose
34	chr11:120214200-120216000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:120214200-120216000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:120214200-120216000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr11:120214200-120216000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:120214200-120216000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:120214200-120216000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:120214200-120216000	Enhancers	Hela-S3	cervix
41	chr11:120214200-120216000	Enhancers	NH-A	brain
42	chr11:120214200-120216200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:120214200-120216200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:120214200-120216200	Enhancers	Left Ventricle	heart
45	chr11:120214200-120216200	Enhancers	Small Intestine	intestine
46	chr11:120214200-120216200	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:120214200-120216200	Enhancers	HMEC	breast
48	chr11:120214200-120216200	Enhancers	HSMM	muscle
49	chr11:120214200-120216400	Enhancers	Fetal Intestine Large	intestine
50	chr11:120214400-120216200	Bivalent Enhancer	Primary B cells from cord blood	blood

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