Variant report

Variant	rs2291852
Chromosome Location	chr5:58332095-58332096
allele	A/G
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	JUND	chr5:58331941-58332610	Hela-S3	cervix:	n/a	chr5:58332247-58332258 chr5:58332247-58332259 chr5:58332249-58332257
2	ATF3	chr5:58332036-58332626	A549	lung:	n/a	n/a
3	GATA3	chr5:58332039-58332652	SK-N-SH	brain:	n/a	chr5:58332250-58332259
4	GATA3	chr5:58332021-58332623	A549	lung:	n/a	chr5:58332250-58332259
5	EP300	chr5:58330146-58332769	SK-N-SH	brain:	n/a	chr5:58332292-58332306
6	GATA3	chr5:58331309-58332669	SK-N-SH	brain:	n/a	chr5:58332250-58332259
7	FOSL2	chr5:58331985-58332646	SK-N-SH	brain:	n/a	chr5:58332247-58332259 chr5:58332249-58332257
8	RAD21	chr5:58332011-58332695	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:58332054-58332652	Hela-S3	cervix:	n/a	chr5:58332295-58332306 chr5:58332294-58332307
10	FOSL2	chr5:58331573-58332818	A549	lung:	n/a	chr5:58332247-58332259 chr5:58332249-58332257
11	EP300	chr5:58331646-58332768	Hela-S3	cervix:	n/a	chr5:58332292-58332306
12	MAX	chr5:58331716-58332629	A549	lung:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
13	SIX5	chr5:58330273-58336780	A549	lung:	n/a	chr5:58334021-58334030
14	EP300	chr5:58331887-58332693	A549	lung:	n/a	chr5:58332292-58332306
15	JUND	chr5:58332018-58332645	SK-N-SH	brain:	n/a	chr5:58332247-58332258 chr5:58332247-58332259 chr5:58332249-58332257
16	FOS	chr5:58332061-58332578	MCF10A-Er-Src	breast:	n/a	chr5:58332247-58332259 chr5:58332249-58332257 chr5:58332247-58332258
17	STAT3	chr5:58331821-58332760	MCF10A-Er-Src	breast:	n/a	n/a
18	REST	chr5:58331372-58337614	A549	lung:	n/a	chr5:58334044-58334052 chr5:58335557-58335570
19	FOS	chr5:58331643-58332693	MCF10A-Er-Src	breast:	n/a	chr5:58332247-58332259 chr5:58332249-58332257 chr5:58332247-58332258
20	FOSL2	chr5:58332067-58332531	A549	lung:	n/a	chr5:58332247-58332259 chr5:58332249-58332257
21	JUND	chr5:58331948-58332698	SK-N-SH	brain:	n/a	chr5:58332247-58332258 chr5:58332247-58332259 chr5:58332249-58332257
22	RCOR1	chr5:58331889-58332549	Hela-S3	cervix:	n/a	n/a
23	MAX	chr5:58332060-58332607	NB4	blood:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
24	CEBPB	chr5:58331861-58332795	A549	lung:	n/a	chr5:58332295-58332306 chr5:58332294-58332307
25	PBX3	chr5:58332072-58332657	A549	lung:	n/a	n/a
26	SP1	chr5:58332016-58332717	A549	lung:	n/a	n/a
27	SP1	chr5:58331577-58338881	A549	lung:	n/a	chr5:58333512-58333519 chr5:58335988-58335997
28	MXI1	chr5:58332030-58332522	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:58331579-58336345	IMR90	lung:	n/a	n/a
30	NR3C1	chr5:58332072-58332489	A549	lung:	n/a	chr5:58332122-58332131
31	CEBPB	chr5:58332048-58332666	A549	lung:	n/a	chr5:58332295-58332306 chr5:58332294-58332307
32	CEBPB	chr5:58332090-58332555	ECC-1	luminal epithelium:	n/a	chr5:58332295-58332306 chr5:58332294-58332307
33	STAT3	chr5:58332000-58332789	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr5:58331984-58332616	MCF10A-Er-Src	breast:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
35	JUN	chr5:58331976-58333076	Hela-S3	cervix:	n/a	chr5:58332292-58332305 chr5:58332247-58332259 chr5:58332249-58332257
36	MYC	chr5:58331448-58332794	MCF10A-Er-Src	breast:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
37	STAT3	chr5:58332021-58332608	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr5:58332025-58332800	A549	lung:	n/a	n/a
39	FOXA2	chr5:58332012-58332547	A549	lung:	n/a	n/a
40	ATF3	chr5:58332054-58332499	HCT-116	colon:	n/a	n/a
41	FOS	chr5:58331713-58332640	MCF10A-Er-Src	breast:	n/a	chr5:58332247-58332259 chr5:58332249-58332257 chr5:58332247-58332258
42	RFX5	chr5:58331870-58332542	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:58331628-58332531	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr5:58332062-58336640	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr5:58331492-58333960	PFSK-1	brain:	n/a	n/a
46	FOS	chr5:58332092-58332485	HUVEC	blood vessel:	n/a	chr5:58332247-58332259 chr5:58332249-58332257 chr5:58332247-58332258
47	BCL3	chr5:58332094-58332591	A549	lung:	n/a	chr5:58332249-58332258
48	BCL3	chr5:58330017-58334935	A549	lung:	n/a	chr5:58332249-58332258 chr5:58333393-58333401
49	MAX	chr5:58331989-58332557	Hela-S3	cervix:	n/a	chr5:58332295-58332304 chr5:58332190-58332197 chr5:58332249-58332258
50	POLR2A	chr5:58331501-58332642	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000247345	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10052704	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10053177	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10061320	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10063703	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10065498	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10069187	0.84[ASN][1000 genomes]
rs10940638	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11750426	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11948356	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11957827	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13357540	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13361043	0.86[AMR][1000 genomes]
rs13362239	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13362296	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16888990	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16888998	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1874857	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1874858	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1874859	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2055296	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2055297	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2055298	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2291851	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4469166	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4631140	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4699932	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4700315	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4700317	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58779089	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58940834	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61511922	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62358490	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62358491	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62358492	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6876057	0.86[AMR][1000 genomes]
rs7714489	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7729722	0.84[ASN][1000 genomes]
rs7733884	0.84[ASN][1000 genomes]
rs7735570	0.87[EUR][1000 genomes];0.89[ASN][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58313000-58333400	Weak transcription	Lung	lung
2	chr5:58318000-58333000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:58318600-58333000	Weak transcription	Left Ventricle	heart
4	chr5:58318600-58333200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58320200-58334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:58321800-58334000	Weak transcription	Gastric	stomach
7	chr5:58324600-58333000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:58326000-58332200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:58327000-58334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:58329200-58332400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:58329200-58333200	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:58330200-58332200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr5:58330200-58332200	Enhancers	Fetal Lung	lung
14	chr5:58330200-58333000	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:58330200-58333600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr5:58330400-58332200	Enhancers	Colon Smooth Muscle	Colon
17	chr5:58330400-58336400	Active TSS	Right Ventricle	heart
18	chr5:58330400-58336600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:58330600-58332200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:58330600-58332400	Enhancers	HSMMtube	muscle
21	chr5:58330600-58333400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:58330600-58333600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:58330600-58334600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:58330600-58335000	Transcr. at gene 5' and 3'	A549	lung
25	chr5:58330600-58336200	Active TSS	Right Atrium	heart
26	chr5:58330800-58333000	Active TSS	Thymus	Thymus
27	chr5:58330800-58335800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:58331000-58332200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:58331000-58332200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:58331000-58332800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:58331000-58333000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:58331000-58333000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:58331000-58333000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:58331000-58333400	Enhancers	Fetal Heart	heart
35	chr5:58331000-58333400	Weak transcription	Small Intestine	intestine
36	chr5:58331000-58333800	Active TSS	Fetal Thymus	thymus
37	chr5:58331000-58336200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:58331000-58336400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:58331000-58336600	Active TSS	Psoas Muscle	Psoas
40	chr5:58331200-58332400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:58331200-58333800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:58331200-58334400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:58331400-58332200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:58331600-58332200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:58331600-58332200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:58331600-58332200	Enhancers	Fetal Intestine Large	intestine
47	chr5:58331600-58332200	Enhancers	NHLF	lung
48	chr5:58331600-58332200	Flanking Active TSS	Osteobl	bone
49	chr5:58331600-58332600	Enhancers	NH-A	brain
50	chr5:58331600-58332800	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links