Variant report

Variant	rs34525014
Chromosome Location	chr2:31584874-31584875
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12712316	0.87[EUR][1000 genomes]
rs1594159	0.94[EUR][1000 genomes]
rs35408744	0.94[EUR][1000 genomes]
rs45472693	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45554434	0.94[EUR][1000 genomes]
rs45561543	0.94[EUR][1000 genomes]
rs66479838	0.94[EUR][1000 genomes]
rs66801306	0.94[EUR][1000 genomes]
rs6760292	0.94[EUR][1000 genomes]
rs7571290	1.00[EUR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31560800-31599800	Weak transcription	Esophagus	oesophagus
3	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:31571200-31588200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:31572000-31594600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:31573200-31588800	Weak transcription	Placenta	Placenta
7	chr2:31573600-31585000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:31573600-31601000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
10	chr2:31577200-31589800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:31579200-31605400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:31579600-31587000	Weak transcription	NHEK	skin
13	chr2:31583000-31585600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:31583600-31585000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:31583600-31588000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:31583600-31600400	Strong transcription	Liver	Liver
17	chr2:31583800-31585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:31583800-31587000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:31583800-31587400	Weak transcription	Hela-S3	cervix
20	chr2:31584000-31601400	Strong transcription	HMEC	breast

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