Variant report

Variant	rs12282980
Chromosome Location	chr11:57243373-57243374
allele	A/G
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	chr11:57243051..57244044-chr3:51976563..51977136,2	Hela-S3	cervix:
2	chr11:57241042..57244897-chr11:57245318..57249265,7	K562	blood:
3	chr11:57243239..57245827-chr11:57433789..57436480,2	K562	blood:
4	chr11:57238280..57240844-chr11:57241461..57244057,2	K562	blood:
5	chr11:57243206..57244051-chr15:66796884..66797509,2	Hela-S3	cervix:
6	chr11:57227567..57231399-chr11:57243101..57246842,4	MCF-7	breast:
7	chr11:57240991..57243890-chr11:57248051..57250627,2	MCF-7	breast:
8	chr11:57242576..57245304-chr11:57423792..57425526,2	MCF-7	breast:
9	chr11:57227974..57230199-chr11:57243067..57246052,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174444	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000041880	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000174442	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10160797	1.00[AMR][1000 genomes]
rs2926663	1.00[AMR][1000 genomes]
rs2956983	1.00[AMR][1000 genomes]
rs2969941	1.00[AMR][1000 genomes]
rs2969942	1.00[AMR][1000 genomes]
rs3016261	1.00[AMR][1000 genomes]
rs3016262	1.00[AMR][1000 genomes]
rs3016263	1.00[AMR][1000 genomes]
rs3016264	1.00[AMR][1000 genomes]
rs3016293	1.00[AMR][1000 genomes]
rs7127878	1.00[AMR][1000 genomes]
rs7939745	1.00[AMR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv3404360	chr11:57242601-57245149	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57240200-57243400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:57240400-57244000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:57240600-57243400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr11:57240800-57243400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:57240800-57243600	Bivalent Enhancer	Fetal Stomach	stomach
6	chr11:57241200-57243400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr11:57241400-57243400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:57241400-57243400	Enhancers	A549	lung
9	chr11:57241400-57243600	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:57241400-57243600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:57241600-57243400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:57241600-57243400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:57241600-57243400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:57241600-57243400	Enhancers	Right Ventricle	heart
15	chr11:57241600-57243600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr11:57241600-57243600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:57241800-57243600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:57242000-57243400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:57242000-57244400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:57242000-57244800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:57242200-57243400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr11:57242200-57243400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:57242200-57243400	Weak transcription	Gastric	stomach
24	chr11:57242200-57243400	Weak transcription	Right Atrium	heart
25	chr11:57242200-57243600	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:57242200-57244400	Bivalent Enhancer	Fetal Brain Male	brain
27	chr11:57242200-57246400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:57242400-57243400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
29	chr11:57242400-57243400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:57242400-57243400	Weak transcription	Pancreas	Pancrea
31	chr11:57242400-57243800	Flanking Active TSS	Hela-S3	cervix
32	chr11:57242400-57244200	Bivalent Enhancer	Fetal Thymus	thymus
33	chr11:57242600-57243400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr11:57242600-57243400	Weak transcription	Lung	lung
35	chr11:57242600-57243600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:57242600-57243600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:57242600-57243600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:57242600-57243600	Bivalent Enhancer	Thymus	Thymus
39	chr11:57242600-57244600	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:57242800-57243600	Bivalent Enhancer	NHEK	skin
41	chr11:57242800-57243800	Bivalent Enhancer	HUVEC	blood vessel
42	chr11:57242800-57245200	Weak transcription	HepG2	liver
43	chr11:57242800-57247600	Weak transcription	K562	blood
44	chr11:57243000-57243400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr11:57243000-57243400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr11:57243000-57243600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:57243000-57243600	Enhancers	Liver	Liver
48	chr11:57243200-57243400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr11:57243200-57243400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:57243200-57243400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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