Variant report

Variant	rs2352591
Chromosome Location	chr4:48082374-48082375
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	chr4:48081929-48082636	SK-N-SH	brain:	n/a	chr4:48082559-48082571
2	GATA3	chr4:48082063-48082568	SH-SY5Y	brain:	n/a	chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082245-48082261 chr4:48082249-48082257 chr4:48082473-48082483 chr4:48082243-48082264 chr4:48082250-48082257
3	EP300	chr4:48081997-48082523	SK-N-SH_RA	brain:	n/a	chr4:48082182-48082192
4	GATA3	chr4:48081792-48082634	SK-N-SH	brain:	n/a	chr4:48082249-48082257 chr4:48082243-48082264 chr4:48082250-48082257 chr4:48082473-48082483 chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082245-48082261
5	SETDB1	chr4:48081752-48082608	U2OS	brain:	n/a	n/a
6	GATA3	chr4:48081949-48082528	A549	lung:	n/a	chr4:48082249-48082257 chr4:48082243-48082264 chr4:48082250-48082257 chr4:48082473-48082483 chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082245-48082261
7	GATA3	chr4:48081680-48082862	SK-N-SH	brain:	n/a	chr4:48082249-48082257 chr4:48082243-48082264 chr4:48082250-48082257 chr4:48082473-48082483 chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082245-48082261
8	TCF12	chr4:48081829-48082623	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr4:48081847-48082549	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr4:48082011-48082513	SK-N-MC	brain:	n/a	n/a
11	PBX3	chr4:48081976-48082552	SK-N-SH	brain:	n/a	n/a
12	GATA2	chr4:48081864-48082654	HUVEC	blood vessel:	n/a	chr4:48082243-48082264 chr4:48082250-48082257 chr4:48082473-48082483 chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082252-48082266 chr4:48082245-48082261
13	RCOR1	chr4:48081969-48082651	Hela-S3	cervix:	n/a	n/a
14	TCF7L2	chr4:48082034-48082837	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr4:48082064-48082513	SK-N-SH	brain:	n/a	n/a
16	RXRA	chr4:48081899-48082602	SK-N-SH	brain:	n/a	chr4:48082477-48082486 chr4:48082318-48082334
17	TCF12	chr4:48081793-48082695	A549	lung:	n/a	n/a
18	SP1	chr4:48082014-48082603	HCT-116	colon:	n/a	n/a
19	RFX5	chr4:48081962-48082558	Hela-S3	cervix:	n/a	n/a
20	SIN3AK20	chr4:48081893-48082637	MCF-7	breast:	n/a	n/a
21	NR2F2	chr4:48081985-48082433	MCF-7	breast:	n/a	n/a
22	FOS	chr4:48081861-48082660	HUVEC	blood vessel:	n/a	chr4:48082559-48082571
23	TEAD4	chr4:48082016-48082603	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr4:48082078-48082449	PANC-1	pancreas:	n/a	n/a
25	FOSL2	chr4:48082021-48082573	A549	lung:	n/a	chr4:48082559-48082571
26	RXRA	chr4:48081957-48082607	SK-N-SH	brain:	n/a	chr4:48082477-48082486 chr4:48082318-48082334
27	SP1	chr4:48081923-48082585	A549	lung:	n/a	n/a
28	TEAD4	chr4:48082000-48082625	SK-N-SH	brain:	n/a	n/a
29	EP300	chr4:48081799-48082801	SK-N-SH	brain:	n/a	chr4:48082182-48082192
30	TEAD4	chr4:48082088-48082541	A549	lung:	n/a	n/a
31	PBX3	chr4:48082039-48082565	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr4:48081959-48082518	T-47D	breast:	n/a	chr4:48082249-48082257 chr4:48082243-48082264 chr4:48082250-48082257 chr4:48082473-48082483 chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082245-48082261
33	EP300	chr4:48081976-48082512	SK-N-SH_RA	brain:	n/a	chr4:48082182-48082192
34	GABPA	chr4:48082041-48082507	MCF-7	breast:	n/a	n/a
35	JUND	chr4:48081990-48082568	Hela-S3	cervix:	n/a	n/a
36	ZNF217	chr4:48082176-48082405	MCF-7	breast:	n/a	n/a
37	STAT3	chr4:48081997-48082506	Hela-S3	cervix:	n/a	n/a
38	EP300	chr4:48081880-48082591	SK-N-SH	brain:	n/a	chr4:48082182-48082192
39	CEBPB	chr4:48081985-48082836	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:48082062-48082566	HUVEC	blood vessel:	n/a	n/a
41	JUND	chr4:48082053-48082608	HCT-116	colon:	n/a	chr4:48082559-48082571
42	HDAC2	chr4:48081976-48082512	MCF-7	breast:	n/a	n/a
43	GATA3	chr4:48081990-48082615	MCF-7	breast:	n/a	chr4:48082249-48082257 chr4:48082243-48082264 chr4:48082250-48082257 chr4:48082473-48082483 chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082245-48082261
44	JUND	chr4:48081900-48082525	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr4:48081817-48082584	MCF-7	breast:	n/a	chr4:48082249-48082257 chr4:48082243-48082264 chr4:48082250-48082257 chr4:48082473-48082483 chr4:48082250-48082257 chr4:48082250-48082257 chr4:48082245-48082261
46	TFAP2A	chr4:48082177-48082505	Hela-S3	cervix:	n/a	n/a
47	FOSL2	chr4:48081984-48082570	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr4:48081811-48082605	HUVEC	blood vessel:	n/a	n/a
49	FOSL2	chr4:48082089-48082410	MCF-7	breast:	n/a	n/a
50	EP300	chr4:48081987-48082562	Hela-S3	cervix:	n/a	chr4:48082182-48082192

Variant related genes	Relation type
TXK	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1396049	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs1507923	0.85[YRI][hapmap]
rs16860943	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs16861067	0.83[AMR][1000 genomes]
rs1979972	0.83[AMR][1000 genomes]
rs2089508	0.83[AMR][1000 genomes]
rs2135957	1.00[AMR][1000 genomes]
rs2251240	0.84[YRI][hapmap];0.83[AMR][1000 genomes]
rs2352590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456926	1.00[AMR][1000 genomes]
rs2464500	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs2464501	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2464506	1.00[AMR][1000 genomes]
rs2661522	0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2661526	0.83[AMR][1000 genomes]
rs2661527	0.83[AMR][1000 genomes]
rs2661531	0.83[AMR][1000 genomes]
rs2661534	0.83[AMR][1000 genomes]
rs2704397	0.83[AMR][1000 genomes]
rs2704398	0.83[AMR][1000 genomes]
rs2704427	0.83[AMR][1000 genomes]
rs2704428	0.83[AMR][1000 genomes]
rs2704429	0.83[AMR][1000 genomes]
rs2704432	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs2940329	0.83[AMR][1000 genomes]
rs34386002	0.83[AMR][1000 genomes]
rs3857073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695333	0.83[AMR][1000 genomes]
rs60470389	0.83[AMR][1000 genomes]
rs6830656	0.85[YRI][hapmap]
rs6832090	0.85[YRI][hapmap]
rs6858033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7692882	0.83[AMR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48067600-48102400	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr4:48069600-48082600	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr4:48069800-48088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:48070800-48105200	Weak transcription	GM12878-XiMat	blood
5	chr4:48073800-48088000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:48073800-48088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:48076600-48092400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:48079000-48084600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:48079000-48087400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:48080600-48084600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:48080600-48084600	Enhancers	Hela-S3	cervix
12	chr4:48080600-48085200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:48081400-48082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:48081400-48082600	Enhancers	HMEC	breast
15	chr4:48081400-48082800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:48081400-48083400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:48081400-48083400	Enhancers	NHEK	skin
18	chr4:48081600-48082400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:48081600-48082400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:48081600-48082400	Enhancers	Fetal Lung	lung
21	chr4:48081600-48082600	Enhancers	NHLF	lung
22	chr4:48081600-48082800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:48081600-48082800	Flanking Active TSS	HUVEC	blood vessel
24	chr4:48081600-48094200	Weak transcription	Pancreas	Pancrea
25	chr4:48081800-48082400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:48081800-48082600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:48081800-48082600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:48081800-48083400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:48081800-48083800	Weak transcription	Placenta	Placenta
30	chr4:48082000-48082400	Enhancers	Osteobl	bone
31	chr4:48082000-48082600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:48082000-48082600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:48082000-48082600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr4:48082000-48082600	Flanking Active TSS	A549	lung
35	chr4:48082000-48082600	Flanking Active TSS	NH-A	brain
36	chr4:48082000-48082800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:48082000-48083400	Genic enhancers	Primary T cells from cord blood	blood
38	chr4:48082200-48082400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:48082200-48082400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:48082200-48082600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:48082200-48082600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:48082200-48082600	Enhancers	Sigmoid Colon	Sigmoid Colon

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