Variant report

Variant	rs7579312
Chromosome Location	chr2:189882685-189882686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10176565	0.87[AFR][1000 genomes]
rs11885919	0.89[AFR][1000 genomes]
rs11893117	0.89[AFR][1000 genomes]
rs11898277	0.89[AFR][1000 genomes]
rs12617111	0.89[AFR][1000 genomes]
rs13401146	0.91[AFR][1000 genomes]
rs7422977	0.89[AFR][1000 genomes]
rs7565215	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7565451	0.85[AFR][1000 genomes]
rs7573709	0.87[AFR][1000 genomes]
rs7576472	0.86[AFR][1000 genomes]
rs7576474	0.86[AFR][1000 genomes]
rs7587776	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189871600-189884600	Weak transcription	Fetal Kidney	kidney
2	chr2:189873200-189885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189876000-189884400	Weak transcription	HSMMtube	muscle
4	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189876400-189883400	Weak transcription	NH-A	brain
6	chr2:189877400-189886200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:189877800-189885200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:189878000-189883600	Weak transcription	HSMM	muscle
10	chr2:189878000-189886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:189879400-189883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:189879400-189884000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:189879400-189885200	Weak transcription	Pancreas	Pancrea
14	chr2:189879400-189886200	Weak transcription	Aorta	Aorta
15	chr2:189879800-189883600	Weak transcription	NHLF	lung
16	chr2:189880000-189882800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:189880200-189895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:189880400-189882800	Weak transcription	NHDF-Ad	bronchial
19	chr2:189880400-189884000	Weak transcription	Ovary	ovary
20	chr2:189880400-189884200	Weak transcription	Fetal Lung	lung
21	chr2:189880800-189883600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:189880800-189885000	Weak transcription	Fetal Stomach	stomach
23	chr2:189881000-189884400	Enhancers	Osteobl	bone
24	chr2:189881200-189895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:189881600-189883000	Weak transcription	HUVEC	blood vessel
26	chr2:189882400-189882800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:189882600-189883000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:189882600-189885600	Enhancers	Muscle Satellite Cultured Cells	--

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