Variant report

Variant	rs2062958
Chromosome Location	chr4:76766649-76766650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76598734..76600560-chr4:76764992..76767799,2	K562	blood:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1876099	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57961226	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6531959	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6531960	0.86[ASN][1000 genomes]
rs7340822	0.80[EUR][1000 genomes]
rs7340823	0.80[EUR][1000 genomes]
rs7692052	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7696758	0.81[AMR][1000 genomes]
rs924937	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv964255	chr4:76761215-76773429	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76763200-76769000	Weak transcription	Left Ventricle	heart
2	chr4:76763200-76770600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:76763400-76769000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:76763400-76769000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:76763400-76769200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:76763400-76769600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:76763400-76770600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:76763400-76773600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:76763600-76768600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:76763600-76769000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:76763600-76769000	Weak transcription	Fetal Heart	heart
12	chr4:76763600-76769000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:76763600-76769200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:76763600-76769200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:76763600-76770600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:76764800-76767200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:76764800-76767600	Enhancers	NH-A	brain
18	chr4:76764800-76767600	Enhancers	Osteobl	bone
19	chr4:76764800-76769000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:76765200-76770200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:76765600-76769200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:76765600-76769400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:76765800-76766800	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:76765800-76768600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:76765800-76769200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:76765800-76769200	Weak transcription	K562	blood
27	chr4:76766000-76767600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:76766000-76768800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:76766000-76769000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:76766000-76769000	Weak transcription	Psoas Muscle	Psoas
31	chr4:76766000-76769000	Weak transcription	Right Atrium	heart
32	chr4:76766000-76769200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:76766000-76769200	Weak transcription	Fetal Intestine Small	intestine
34	chr4:76766000-76769200	Weak transcription	Placenta	Placenta
35	chr4:76766000-76769200	Weak transcription	Ovary	ovary
36	chr4:76766000-76769200	Weak transcription	Pancreas	Pancrea
37	chr4:76766000-76769400	Weak transcription	Adipose Nuclei	Adipose
38	chr4:76766000-76770200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:76766000-76770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:76766200-76767400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:76766200-76767400	Enhancers	A549	lung
42	chr4:76766200-76768200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:76766200-76768600	Weak transcription	HSMMtube	muscle
44	chr4:76766400-76768600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:76766400-76769200	Weak transcription	Hela-S3	cervix
46	chr4:76766400-76769200	Weak transcription	NHDF-Ad	bronchial
47	chr4:76766600-76767000	Weak transcription	NHLF	lung
48	chr4:76766600-76769000	Weak transcription	HepG2	liver

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