Variant report

Variant	rs45532634
Chromosome Location	chr2:31595574-31595575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10181969	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13398137	0.96[ASN][1000 genomes]
rs17011353	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17011359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4407290	0.83[AMR][1000 genomes]
rs45445692	0.95[ASN][1000 genomes]
rs45466195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45491696	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45493094	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45523133	0.83[AMR][1000 genomes]
rs45575032	0.83[AMR][1000 genomes]
rs45576138	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45596941	1.00[ASN][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	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
2	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
3	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 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	chr2:31573600-31601000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
6	chr2:31579200-31605400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:31583600-31600400	Strong transcription	Liver	Liver
8	chr2:31584000-31601400	Strong transcription	HMEC	breast
9	chr2:31585000-31601200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:31585600-31596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:31585600-31600800	Strong transcription	Fetal Intestine Large	intestine
12	chr2:31585800-31600600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:31585800-31604600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:31586000-31613000	Weak transcription	Small Intestine	intestine
15	chr2:31586400-31604400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:31587000-31600600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:31587000-31601600	Strong transcription	NHEK	skin
18	chr2:31589000-31601200	Weak transcription	Gastric	stomach
19	chr2:31589000-31604400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:31591400-31604400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:31592200-31600000	Weak transcription	Pancreas	Pancrea
22	chr2:31593200-31598800	Strong transcription	Fetal Intestine Small	intestine
23	chr2:31593800-31599200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:31594600-31604200	Weak transcription	Placenta	Placenta
25	chr2:31595000-31606000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:31595200-31604800	Weak transcription	Stomach Mucosa	stomach
27	chr2:31595400-31598200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:31595400-31603000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:31595400-31605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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