Variant report

Variant	rs7428188
Chromosome Location	chr3:100258489-100258490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11708520	1.00[ASN][1000 genomes]
rs11715623	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62278360	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135413	1.00[ASN][1000 genomes]
rs73139204	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73152160	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877218	chr3:100176360-100267619	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7428188	TMEM45A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100238000-100265400	Weak transcription	HSMMtube	muscle
2	chr3:100241000-100299800	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:100242400-100265000	Weak transcription	HepG2	liver
4	chr3:100242400-100268000	Weak transcription	Ovary	ovary
5	chr3:100244600-100261400	Weak transcription	Fetal Lung	lung
6	chr3:100244800-100267000	Weak transcription	HSMM	muscle
7	chr3:100253800-100289000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:100253800-100289000	Weak transcription	Aorta	Aorta
9	chr3:100254000-100269400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:100255000-100274800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:100255200-100258600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:100255600-100266600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:100255800-100267600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:100256400-100264200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:100256600-100263000	Weak transcription	Pancreas	Pancrea
16	chr3:100256800-100266800	Weak transcription	Fetal Stomach	stomach
17	chr3:100256800-100268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:100257000-100260000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:100257000-100264200	Weak transcription	Hela-S3	cervix
20	chr3:100257400-100260000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:100257400-100260000	Weak transcription	HMEC	breast
22	chr3:100257400-100260000	Weak transcription	NHEK	skin
23	chr3:100257400-100261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:100257400-100265200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:100257600-100267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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