Variant report

Variant	rs579543
Chromosome Location	chr2:113889631-113889632
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	chr2:113888649..113891490-chr2:113893231..113895464,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11123165	0.81[EUR][1000 genomes]
rs128964	0.81[AMR][1000 genomes]
rs16065	0.90[CEU][hapmap];0.83[GIH][hapmap]
rs1794065	0.81[AMR][1000 genomes]
rs1794067	0.90[CEU][hapmap]
rs1794068	0.90[CEU][hapmap];0.81[AMR][1000 genomes]
rs2853628	0.87[CEU][hapmap]
rs3087270	0.86[EUR][1000 genomes]
rs3087271	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs315936	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs3181059	0.86[EUR][1000 genomes]
rs35786438	0.80[EUR][1000 genomes]
rs392503	0.81[AMR][1000 genomes]
rs396201	0.86[EUR][1000 genomes]
rs397211	0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs408392	0.81[AMR][1000 genomes]
rs419598	0.81[AMR][1000 genomes]
rs423904	0.81[AMR][1000 genomes]
rs4251967	0.90[CEU][hapmap]
rs4251970	0.90[CEU][hapmap];0.80[GIH][hapmap]
rs4251984	0.90[CEU][hapmap];0.81[GIH][hapmap]
rs4251985	0.90[CEU][hapmap];0.81[GIH][hapmap]
rs434792	0.83[AMR][1000 genomes]
rs440286	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442710	0.81[AMR][1000 genomes]
rs444413	0.90[CEU][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs446433	0.81[AMR][1000 genomes]
rs447713	0.81[AMR][1000 genomes]
rs448341	0.83[AMR][1000 genomes]
rs451578	0.82[AMR][1000 genomes]
rs454078	0.84[AMR][1000 genomes]
rs495282	0.81[AMR][1000 genomes]
rs495410	0.81[AMR][1000 genomes]
rs55845888	0.80[EUR][1000 genomes]
rs55877563	0.80[AMR][1000 genomes]
rs598859	0.83[AMR][1000 genomes]
rs62161283	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9005	0.92[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:113882600-113890000	Weak transcription	Lung	lung
3	chr2:113882800-113891200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:113883400-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:113885000-113890400	Strong transcription	NHEK	skin
6	chr2:113885200-113892200	Strong transcription	Esophagus	oesophagus
7	chr2:113885400-113890400	Weak transcription	Fetal Thymus	thymus
8	chr2:113885800-113891000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:113885800-113896200	Weak transcription	Placenta	Placenta
10	chr2:113886200-113891200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:113887400-113890800	Strong transcription	Gastric	stomach
12	chr2:113887400-113890800	Strong transcription	Spleen	Spleen
13	chr2:113888600-113892000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:113888800-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:113888800-113891000	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:113888800-113891200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:113888800-113891600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:113889200-113890800	Weak transcription	HMEC	breast
19	chr2:113889200-113892200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:113889400-113890600	Strong transcription	HepG2	liver
21	chr2:113889400-113892200	Strong transcription	Liver	Liver
22	chr2:113889600-113891000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:113889600-113895000	Weak transcription	Stomach Mucosa	stomach

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