Variant report

Variant	rs72952607
Chromosome Location	chr2:113887883-113887884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10184277	1.00[AMR][1000 genomes]
rs10496448	1.00[AMR][1000 genomes]
rs1446519	1.00[AMR][1000 genomes]
rs17043031	1.00[AMR][1000 genomes]
rs28928271	1.00[AMR][1000 genomes]
rs28929173	1.00[AMR][1000 genomes]
rs28938772	1.00[AMR][1000 genomes]
rs34433610	1.00[AMR][1000 genomes]
rs34510646	1.00[AMR][1000 genomes]
rs35354222	1.00[AMR][1000 genomes]
rs35528124	1.00[AMR][1000 genomes]
rs35626718	1.00[AMR][1000 genomes]
rs35724334	1.00[AMR][1000 genomes]
rs35797500	1.00[AMR][1000 genomes]
rs35835383	1.00[AMR][1000 genomes]
rs35985961	1.00[AMR][1000 genomes]
rs36026956	1.00[AMR][1000 genomes]
rs36100241	1.00[AMR][1000 genomes]
rs45527538	1.00[AMR][1000 genomes]
rs45549331	1.00[AMR][1000 genomes]
rs72944561	1.00[AMR][1000 genomes]
rs72944568	1.00[AMR][1000 genomes]
rs72944570	1.00[AMR][1000 genomes]
rs72944577	1.00[AMR][1000 genomes]
rs72944582	1.00[AMR][1000 genomes]
rs72952636	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7558672	1.00[AMR][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	chr2:113882800-113889200	Weak transcription	Stomach Mucosa	stomach
4	chr2:113882800-113891200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:113883200-113888600	Weak transcription	HMEC	breast
6	chr2:113883400-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113885000-113890400	Strong transcription	NHEK	skin
8	chr2:113885200-113892200	Strong transcription	Esophagus	oesophagus
9	chr2:113885400-113890400	Weak transcription	Fetal Thymus	thymus
10	chr2:113885800-113891000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:113885800-113896200	Weak transcription	Placenta	Placenta
12	chr2:113886200-113891200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:113886400-113889600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:113886600-113888600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
15	chr2:113886800-113888800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
16	chr2:113887200-113889200	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:113887400-113888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:113887400-113889400	Genic enhancers	Liver	Liver
19	chr2:113887400-113889400	Genic enhancers	HepG2	liver
20	chr2:113887400-113890800	Strong transcription	Gastric	stomach
21	chr2:113887400-113890800	Strong transcription	Spleen	Spleen
22	chr2:113887800-113888200	Enhancers	Primary B cells from cord blood	blood
23	chr2:113887800-113888800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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