Variant report

Variant	rs2740532
Chromosome Location	chr13:50894838-50894839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50854880..50857569-chr13:50892767..50895281,2	MCF-7	breast:
2	chr13:50699045..50701986-chr13:50891820..50895192,4	K562	blood:
3	chr13:50886873..50888479-chr13:50894394..50897216,2	K562	blood:
4	chr13:50893025..50895334-chr13:50896388..50898768,2	MCF-7	breast:
5	chr13:50699318..50701616-chr13:50893692..50896245,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1149854	0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs1149855	0.95[AFR][1000 genomes]
rs1149856	0.90[AFR][1000 genomes]
rs1149861	0.88[AFR][1000 genomes]
rs1149867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1149868	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585618	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1262860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410111	1.00[CEU][hapmap]
rs1623198	0.95[AFR][1000 genomes]
rs17074106	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17074122	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074133	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17074360	1.00[CEU][hapmap]
rs2066688	0.89[ASN][1000 genomes]
rs2580177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762044	0.84[AFR][1000 genomes]
rs2762062	0.89[AFR][1000 genomes]
rs41284822	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv561632	chr13:50874346-50912578	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50892400-50895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:50892600-50895400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr13:50892600-50895600	Enhancers	Primary T cells from cord blood	blood
4	chr13:50892600-50896200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:50892800-50895000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr13:50892800-50895000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr13:50892800-50895000	Enhancers	Fetal Thymus	thymus
8	chr13:50892800-50895200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:50892800-50895200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr13:50892800-50895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr13:50892800-50896000	Enhancers	HepG2	liver
12	chr13:50893000-50895000	Enhancers	Thymus	Thymus
13	chr13:50893000-50895200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr13:50893000-50895400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr13:50893200-50895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:50893200-50895200	Enhancers	Stomach Mucosa	stomach
17	chr13:50893400-50895200	Enhancers	Hela-S3	cervix
18	chr13:50893400-50898200	Weak transcription	Left Ventricle	heart
19	chr13:50893600-50895000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr13:50893600-50895000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr13:50893600-50895000	Flanking Active TSS	A549	lung
22	chr13:50893600-50895200	Enhancers	HSMM	muscle
23	chr13:50893600-50895200	Enhancers	Osteobl	bone
24	chr13:50893600-50895400	Enhancers	HUVEC	blood vessel
25	chr13:50893600-50896600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr13:50893800-50895000	Enhancers	K562	blood
27	chr13:50893800-50895200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:50893800-50895200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:50893800-50895200	Enhancers	NHDF-Ad	bronchial
30	chr13:50894000-50895000	Enhancers	HMEC	breast
31	chr13:50894000-50895000	Enhancers	NHLF	lung
32	chr13:50894000-50895800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr13:50894200-50895000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:50894200-50895200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:50894200-50896400	Enhancers	Dnd41	blood
36	chr13:50894600-50895200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:50894600-50897600	Weak transcription	NH-A	brain
38	chr13:50894600-50897600	Weak transcription	NHEK	skin
39	chr13:50894600-50900600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:50894800-50895000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:50894800-50895000	Enhancers	Pancreas	Pancrea
42	chr13:50894800-50897600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:50894800-50897600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:50894800-50897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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