Variant report

Variant	rs7672582
Chromosome Location	chr4:79474886-79474887
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:79474201-79475683	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr4:79474782-79474982	MCF10A-Er-Src	breast:	n/a	chr4:79474846-79474853
3	EP300	chr4:79474848-79475512	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr4:79472535-79475126	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr4:79472419-79474966	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:79471841-79474919	HCT-116	colon:	n/a	n/a
7	POLR2A	chr4:79472348-79475914	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr4:79474794-79475326	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr4:79474860-79475022	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ANXA3	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10213249	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12650752	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1390738	0.86[ASN][1000 genomes]
rs1390739	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1496589	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1496590	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1496591	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1496592	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1496593	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1603462	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533780	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7691521	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696371	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr4:79472400-79475600	Active TSS	Right Atrium	heart
2	chr4:79472600-79475200	Active TSS	Left Ventricle	heart
3	chr4:79473400-79475000	Weak transcription	Ovary	ovary
4	chr4:79473400-79475200	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr4:79473400-79475600	Enhancers	NHLF	lung
6	chr4:79473400-79481400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:79473400-79481400	Weak transcription	HSMM	muscle
8	chr4:79473400-79481600	Weak transcription	Gastric	stomach
9	chr4:79473400-79481600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:79473400-79485400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:79473600-79475000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:79473600-79478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:79473600-79479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:79473600-79481400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:79473600-79481600	Weak transcription	Pancreas	Pancrea
16	chr4:79473600-79481800	Weak transcription	Small Intestine	intestine
17	chr4:79473600-79487200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:79473800-79475000	Enhancers	Placenta	Placenta
19	chr4:79473800-79475000	Enhancers	HepG2	liver
20	chr4:79473800-79475000	Flanking Active TSS	HMEC	breast
21	chr4:79473800-79475600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
22	chr4:79473800-79481400	Weak transcription	Aorta	Aorta
23	chr4:79474000-79475000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr4:79474000-79475600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr4:79474000-79482200	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:79474200-79475000	Enhancers	Fetal Heart	heart
27	chr4:79474200-79475200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:79474200-79475200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:79474200-79475200	Flanking Active TSS	A549	lung
30	chr4:79474200-79475400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:79474200-79475400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr4:79474200-79475400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:79474200-79475400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr4:79474200-79475400	Flanking Active TSS	Hela-S3	cervix
35	chr4:79474200-79475800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:79474400-79475000	Enhancers	Fetal Kidney	kidney
37	chr4:79474400-79475200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:79474400-79475200	Active TSS	Primary hematopoietic stem cells	blood
39	chr4:79474400-79475400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:79474400-79475400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr4:79474400-79475400	Enhancers	Stomach Smooth Muscle	stomach
42	chr4:79474400-79475600	Enhancers	Fetal Lung	lung
43	chr4:79474400-79475600	Enhancers	Stomach Mucosa	stomach
44	chr4:79474400-79475600	Enhancers	HSMMtube	muscle
45	chr4:79474400-79475800	Transcr. at gene 5' and 3'	NHEK	skin
46	chr4:79474400-79481400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr4:79474400-79481400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:79474400-79481800	Weak transcription	Esophagus	oesophagus
49	chr4:79474400-79486600	Weak transcription	Psoas Muscle	Psoas
50	chr4:79474400-79527200	Weak transcription	Spleen	Spleen

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