Variant report

Variant	rs3176134
Chromosome Location	chr20:23028137-23028138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22937256..22939082-chr20:23027729..23030001,2	MCF-7	breast:
2	chr20:23014536..23017577-chr20:23027797..23030031,3	MCF-7	breast:
3	chr20:23025165..23029019-chr20:23031172..23033319,4	K562	blood:
4	chr20:23027878..23030071-chr20:23034323..23036508,3	MCF-7	breast:
5	chr20:23020985..23023221-chr20:23027756..23029605,2	MCF-7	breast:
6	chr20:22981576..22983427-chr20:23027736..23029557,2	MCF-7	breast:
7	chr20:23025358..23028275-chr20:23031819..23034490,2	K562	blood:

Variant related genes	Relation type
ENSG00000132671	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13306848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3176123	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs41400249	1.00[AMR][1000 genomes]
rs41412346	1.00[AMR][1000 genomes]
rs41460745	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv482065	chr20:23026271-23030301	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23016200-23028200	Weak transcription	Aorta	Aorta
2	chr20:23024200-23028200	Weak transcription	Pancreas	Pancrea
3	chr20:23024600-23031400	Weak transcription	K562	blood
4	chr20:23025800-23028400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:23026000-23032400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr20:23026400-23028400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr20:23026600-23028200	Enhancers	Stomach Mucosa	stomach
8	chr20:23026600-23029600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr20:23026600-23030400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr20:23026800-23028200	Active TSS	Right Ventricle	heart
11	chr20:23026800-23028200	Enhancers	HMEC	breast
12	chr20:23026800-23028400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:23026800-23029000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr20:23026800-23032000	Active TSS	Left Ventricle	heart
15	chr20:23027000-23028400	Active TSS	Gastric	stomach
16	chr20:23027000-23029200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
17	chr20:23027000-23029600	Flanking Active TSS	NHEK	skin
18	chr20:23027200-23028200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:23027200-23028400	Bivalent/Poised TSS	NH-A	brain
20	chr20:23027200-23028600	Bivalent Enhancer	Fetal Thymus	thymus
21	chr20:23027400-23028200	Active TSS	Esophagus	oesophagus
22	chr20:23027400-23028200	Active TSS	Psoas Muscle	Psoas
23	chr20:23027400-23028200	Active TSS	A549	lung
24	chr20:23027400-23031800	Active TSS	Right Atrium	heart
25	chr20:23027400-23032400	Active TSS	Placenta Amnion	Placenta Amnion
26	chr20:23027600-23028200	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr20:23027600-23031800	Active TSS	HSMM	muscle
28	chr20:23027800-23028200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:23027800-23028200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr20:23027800-23028400	Active TSS	NHLF	lung
31	chr20:23027800-23028600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
32	chr20:23027800-23028600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr20:23027800-23029400	Flanking Active TSS	Lung	lung
34	chr20:23027800-23031200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr20:23028000-23028200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr20:23028000-23028200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:23028000-23028200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:23028000-23028200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr20:23028000-23028200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:23028000-23028200	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr20:23028000-23028200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr20:23028000-23028200	Flanking Active TSS	Ovary	ovary
43	chr20:23028000-23028200	Active TSS	Spleen	Spleen
44	chr20:23028000-23028400	Active TSS	NHDF-Ad	bronchial
45	chr20:23028000-23028600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
46	chr20:23028000-23028600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:23028000-23028800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr20:23028000-23029000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:23028000-23029000	Bivalent Enhancer	Fetal Brain Male	brain
50	chr20:23028000-23029000	Flanking Bivalent TSS/Enh	Placenta	Placenta

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