Variant report

Variant	rs12287248
Chromosome Location	chr11:62279634-62279635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62278219..62279969-chr11:62302461..62304217,2	MCF-7	breast:
2	chr11:62270607..62282151-chr11:62305075..62317987,34	MCF-7	breast:
3	chr11:62278327..62279846-chr11:62282493..62284799,2	K562	blood:
4	chr11:62275856..62280048-chr11:62301692..62305667,4	K562	blood:

Variant related genes	Relation type
ENSG00000124942	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000250659	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs17157361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62270800-62281600	Weak transcription	Liver	Liver
2	chr11:62273400-62280600	Weak transcription	Aorta	Aorta
3	chr11:62274200-62281200	Weak transcription	Gastric	stomach
4	chr11:62274600-62280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:62276200-62282000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:62276400-62281000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:62276400-62281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:62276400-62281000	Weak transcription	Ovary	ovary
9	chr11:62276400-62281200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:62276400-62281200	Weak transcription	Left Ventricle	heart
11	chr11:62276400-62281200	Weak transcription	Spleen	Spleen
12	chr11:62276400-62281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:62276400-62282000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:62276400-62282600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:62276400-62290800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:62276400-62298600	Weak transcription	Pancreas	Pancrea
17	chr11:62276600-62281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:62276600-62281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:62276600-62281400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:62276600-62281800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:62276600-62282000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:62276600-62282000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:62276600-62282200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:62276600-62282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:62276600-62283000	Weak transcription	HMEC	breast
26	chr11:62276600-62283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:62276600-62283200	Weak transcription	NHEK	skin
28	chr11:62276600-62283400	Weak transcription	HUVEC	blood vessel
29	chr11:62276600-62284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:62276600-62284400	Weak transcription	Fetal Lung	lung
31	chr11:62276600-62286000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:62276600-62290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:62276600-62290800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:62276600-62292000	Weak transcription	Fetal Kidney	kidney
35	chr11:62276600-62299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:62276600-62301200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:62276800-62281000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:62276800-62281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:62276800-62281200	Weak transcription	NHLF	lung
40	chr11:62276800-62281600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:62276800-62281600	Weak transcription	Fetal Intestine Small	intestine
42	chr11:62276800-62281600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:62276800-62281600	Weak transcription	Stomach Mucosa	stomach
44	chr11:62276800-62281600	Weak transcription	NHDF-Ad	bronchial
45	chr11:62276800-62281800	Weak transcription	HSMMtube	muscle
46	chr11:62276800-62282000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:62276800-62282000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:62276800-62282000	Weak transcription	HSMM	muscle
49	chr11:62276800-62283200	Weak transcription	Colonic Mucosa	Colon
50	chr11:62276800-62284800	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links