Variant report

Variant	rs58215370
Chromosome Location	chr2:40623087-40623088
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:11)

rs_ID	r²[population]
rs13405660	0.82[ASN][1000 genomes]
rs13410483	0.82[ASN][1000 genomes]
rs13417463	0.88[ASN][1000 genomes]
rs35535943	0.96[EUR][1000 genomes]
rs55661117	0.88[ASN][1000 genomes]
rs72941907	0.82[ASN][1000 genomes]
rs73926638	0.88[ASN][1000 genomes]
rs73928973	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73928975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73928979	0.83[ASN][1000 genomes]
rs7563955	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40617200-40623600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:40619000-40624600	Weak transcription	Right Atrium	heart
3	chr2:40621000-40624400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:40621200-40624800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr2:40621400-40624400	Weak transcription	Right Ventricle	heart
6	chr2:40621800-40623800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:40622000-40623200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:40622000-40623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:40622000-40623600	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:40622000-40623600	Enhancers	NHDF-Ad	bronchial
11	chr2:40622000-40623800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:40622000-40624200	Enhancers	Dnd41	blood
13	chr2:40622000-40625000	Enhancers	Colon Smooth Muscle	Colon
14	chr2:40622200-40623600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:40622200-40635600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:40622600-40623200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:40622600-40623200	Enhancers	HSMM	muscle
18	chr2:40622600-40627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:40622800-40623600	Enhancers	Brain Germinal Matrix	brain
20	chr2:40622800-40624600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:40622800-40624800	Genic enhancers	Fetal Heart	heart
22	chr2:40622800-40626400	Weak transcription	Left Ventricle	heart
23	chr2:40622800-40627400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:40622800-40627400	Weak transcription	Brain Anterior Caudate	brain
25	chr2:40622800-40627400	Weak transcription	NH-A	brain
26	chr2:40622800-40627600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:40622800-40627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:40622800-40627600	Weak transcription	Aorta	Aorta
29	chr2:40622800-40627600	Weak transcription	HSMMtube	muscle
30	chr2:40622800-40627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:40622800-40630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:40622800-40630400	Weak transcription	Psoas Muscle	Psoas
33	chr2:40623000-40623400	Weak transcription	Placenta	Placenta
34	chr2:40623000-40624000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:40623000-40624600	Weak transcription	Fetal Brain Female	brain
36	chr2:40623000-40627200	Weak transcription	Adipose Nuclei	Adipose
37	chr2:40623000-40627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:40623000-40627400	Weak transcription	HMEC	breast
39	chr2:40623000-40627400	Weak transcription	Osteobl	bone
40	chr2:40623000-40627600	Weak transcription	NHEK	skin
41	chr2:40623000-40627600	Weak transcription	NHLF	lung
42	chr2:40623000-40627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:40623000-40630400	Weak transcription	Fetal Brain Male	brain
44	chr2:40623000-40630800	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:40623000-40634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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