Variant report

Variant	rs45472693
Chromosome Location	chr2:31589201-31589202
allele	A/G
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	1.00[EUR][1000 genomes]
rs1594159	0.80[EUR][1000 genomes]
rs34525014	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35408744	0.80[EUR][1000 genomes]
rs45554434	0.82[EUR][1000 genomes]
rs45561543	0.82[EUR][1000 genomes]
rs66479838	0.80[EUR][1000 genomes]
rs66801306	0.80[EUR][1000 genomes]
rs6760292	0.82[EUR][1000 genomes]
rs7571290	0.87[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: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	chr2:31572000-31594600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:31573600-31601000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
7	chr2:31577200-31589800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:31579200-31605400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:31583600-31600400	Strong transcription	Liver	Liver
10	chr2:31584000-31601400	Strong transcription	HMEC	breast
11	chr2:31585000-31591600	Strong transcription	Fetal Intestine Small	intestine
12	chr2:31585000-31601200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:31585600-31596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:31585600-31600800	Strong transcription	Fetal Intestine Large	intestine
15	chr2:31585800-31600600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:31585800-31604600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:31586000-31613000	Weak transcription	Small Intestine	intestine
18	chr2:31586400-31604400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:31586800-31590200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:31587000-31600600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr2:31587000-31601600	Strong transcription	NHEK	skin
22	chr2:31588200-31589400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:31588200-31590000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:31588200-31594400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:31589000-31601200	Weak transcription	Gastric	stomach
26	chr2:31589000-31604400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:31589200-31592200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:31589200-31592800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:31589200-31593000	Weak transcription	Placenta	Placenta

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