Variant report

Variant	rs45593434
Chromosome Location	chr2:31558783-31558784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs207430	0.89[ASN][1000 genomes]
rs207433	0.89[ASN][1000 genomes]
rs45488100	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs45598233	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31553400-31559600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:31553600-31560200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:31556000-31558800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:31556200-31558800	Weak transcription	Right Ventricle	heart
6	chr2:31556200-31559800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:31556200-31561000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:31556400-31558800	Genic enhancers	HMEC	breast
9	chr2:31556400-31561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:31556600-31559800	Enhancers	HSMMtube	muscle
11	chr2:31556600-31561600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:31556800-31558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:31556800-31560400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:31556800-31561400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:31556800-31561600	Enhancers	HSMM	muscle
16	chr2:31557200-31558800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:31557200-31579600	Strong transcription	Liver	Liver
18	chr2:31557600-31558800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:31557600-31559200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:31557600-31560400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:31557600-31563600	Weak transcription	Gastric	stomach
22	chr2:31557800-31558800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:31557800-31558800	Weak transcription	NHLF	lung
24	chr2:31557800-31559400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:31558200-31573200	Strong transcription	Fetal Intestine Large	intestine
26	chr2:31558400-31558800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:31558400-31559400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:31558400-31559400	Enhancers	Fetal Heart	heart
29	chr2:31558400-31559600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:31558400-31560400	Enhancers	Osteobl	bone
31	chr2:31558400-31560600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:31558400-31561400	Enhancers	NH-A	brain
33	chr2:31558400-31561400	Enhancers	NHDF-Ad	bronchial
34	chr2:31558600-31558800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:31558600-31558800	Enhancers	A549	lung
36	chr2:31558600-31559400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:31558600-31559600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:31558600-31560200	Genic enhancers	NHEK	skin
39	chr2:31558600-31561400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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