Variant report

Variant	rs10466597
Chromosome Location	chr11:120215262-120215263
allele	A/T
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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10437691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217780	1.00[AMR][1000 genomes]
rs11217784	1.00[AMR][1000 genomes]
rs11217894	1.00[AMR][1000 genomes]
rs12272851	1.00[AMR][1000 genomes]
rs12273736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278707	1.00[AMR][1000 genomes]
rs12279381	1.00[AMR][1000 genomes]
rs12280403	1.00[AMR][1000 genomes]
rs12283229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286309	1.00[AMR][1000 genomes]
rs12288495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288854	1.00[AMR][1000 genomes]
rs12288900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123749	1.00[AMR][1000 genomes]
rs28739499	1.00[AMR][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:113 , 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	chr11:120213600-120215800	Enhancers	HUVEC	blood vessel
26	chr11:120213800-120215600	Enhancers	HepG2	liver
27	chr11:120213800-120216000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:120213800-120216000	Enhancers	Brain Hippocampus Middle	brain
29	chr11:120213800-120217000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:120213800-120224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:120214000-120215600	Enhancers	Osteobl	bone
32	chr11:120214000-120215800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:120214000-120215800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:120214000-120215800	Enhancers	NHDF-Ad	bronchial
35	chr11:120214000-120216000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:120214000-120216400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr11:120214000-120216400	Enhancers	Ovary	ovary
38	chr11:120214000-120217800	Enhancers	Colon Smooth Muscle	Colon
39	chr11:120214000-120218600	Enhancers	Adipose Nuclei	Adipose
40	chr11:120214200-120215600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:120214200-120215600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:120214200-120215600	Enhancers	Spleen	Spleen
43	chr11:120214200-120215800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr11:120214200-120216000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:120214200-120216000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:120214200-120216000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr11:120214200-120216000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:120214200-120216000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:120214200-120216000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:120214200-120216000	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links