Variant report

Variant	rs45505391
Chromosome Location	chr2:31560951-31560952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs45471493	0.84[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31556200-31561000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:31556400-31561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:31556600-31561600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:31556800-31561400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:31556800-31561600	Enhancers	HSMM	muscle
7	chr2:31557200-31579600	Strong transcription	Liver	Liver
8	chr2:31557600-31563600	Weak transcription	Gastric	stomach
9	chr2:31558200-31573200	Strong transcription	Fetal Intestine Large	intestine
10	chr2:31558400-31561400	Enhancers	NH-A	brain
11	chr2:31558400-31561400	Enhancers	NHDF-Ad	bronchial
12	chr2:31558600-31561400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:31558800-31561600	Enhancers	NHLF	lung
14	chr2:31558800-31564600	Strong transcription	Fetal Intestine Small	intestine
15	chr2:31559400-31561600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:31559600-31565600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:31560200-31561000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:31560200-31561200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:31560200-31561200	Enhancers	HSMMtube	muscle
20	chr2:31560400-31561200	Flanking Active TSS	HMEC	breast
21	chr2:31560400-31561400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:31560400-31576800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:31560600-31561000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:31560600-31562400	Weak transcription	Placenta	Placenta
25	chr2:31560800-31561000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:31560800-31561000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:31560800-31561200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:31560800-31561200	Enhancers	A549	lung
29	chr2:31560800-31561200	Enhancers	NHEK	skin
30	chr2:31560800-31561600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:31560800-31561600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:31560800-31561600	Enhancers	Osteobl	bone
33	chr2:31560800-31562600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:31560800-31570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:31560800-31599800	Weak transcription	Esophagus	oesophagus

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