Variant report

Variant	rs73928980
Chromosome Location	chr2:40625499-40625500
allele	A/C
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:2)

rs_ID	r²[population]
rs73928967	0.95[AFR][1000 genomes]
rs73928979	1.00[AFR][1000 genomes];0.89[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40622200-40635600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:40622600-40627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:40622800-40626400	Weak transcription	Left Ventricle	heart
4	chr2:40622800-40627400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:40622800-40627400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:40622800-40627400	Weak transcription	NH-A	brain
7	chr2:40622800-40627600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:40622800-40627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:40622800-40627600	Weak transcription	Aorta	Aorta
10	chr2:40622800-40627600	Weak transcription	HSMMtube	muscle
11	chr2:40622800-40627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:40622800-40630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:40622800-40630400	Weak transcription	Psoas Muscle	Psoas
14	chr2:40623000-40627200	Weak transcription	Adipose Nuclei	Adipose
15	chr2:40623000-40627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:40623000-40627400	Weak transcription	HMEC	breast
17	chr2:40623000-40627400	Weak transcription	Osteobl	bone
18	chr2:40623000-40627600	Weak transcription	NHEK	skin
19	chr2:40623000-40627600	Weak transcription	NHLF	lung
20	chr2:40623000-40627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:40623000-40630400	Weak transcription	Fetal Brain Male	brain
22	chr2:40623000-40630800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:40623000-40634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:40623200-40627200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:40623200-40627600	Weak transcription	HSMM	muscle
26	chr2:40623400-40627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:40623600-40627600	Weak transcription	Placenta	Placenta
28	chr2:40623600-40627600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:40623600-40627600	Weak transcription	NHDF-Ad	bronchial
30	chr2:40623600-40629800	Weak transcription	Brain Germinal Matrix	brain
31	chr2:40623600-40635000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:40624200-40633600	Weak transcription	Dnd41	blood
34	chr2:40624400-40625600	Enhancers	Right Ventricle	heart
35	chr2:40624400-40627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:40624400-40627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:40624800-40627800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:40625000-40627600	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:40625200-40627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:40625400-40625600	Flanking Active TSS	Fetal Heart	heart
41	chr2:40625400-40627600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:40625400-40630600	Weak transcription	Fetal Brain Female	brain
43	chr2:40625400-40631800	Weak transcription	Right Atrium	heart

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