Variant report

Variant	rs45452492
Chromosome Location	chr2:31571027-31571028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17011365	1.00[AMR][1000 genomes]
rs45444396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45465405	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45506497	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45511600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45521940	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45604135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31557200-31579600	Strong transcription	Liver	Liver
3	chr2:31558200-31573200	Strong transcription	Fetal Intestine Large	intestine
4	chr2:31560400-31576800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:31560800-31599800	Weak transcription	Esophagus	oesophagus
6	chr2:31563800-31572800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:31563800-31576600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:31564400-31579600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:31564600-31573200	Strong transcription	HMEC	breast
10	chr2:31565000-31573600	Strong transcription	NHEK	skin
11	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:31565600-31572200	Weak transcription	Placenta	Placenta
13	chr2:31567200-31573000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:31567200-31573200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:31567200-31573600	Strong transcription	Fetal Intestine Small	intestine
16	chr2:31569400-31572000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:31569800-31571200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:31569800-31572200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:31570000-31571200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:31570400-31571200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:31570400-31571200	Enhancers	NH-A	brain
22	chr2:31570400-31571400	Enhancers	NHDF-Ad	bronchial
23	chr2:31570400-31571400	Enhancers	NHLF	lung
24	chr2:31570800-31571200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:31571000-31571200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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