Variant report

Variant	rs17641482
Chromosome Location	chr7:84733138-84733139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10486848	0.81[MEX][hapmap];0.86[AMR][1000 genomes]
rs17561700	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1034620	chr7:84701267-84791576	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv519125	chr7:84704447-84795710	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17641482	SLC25A40	cis	cerebellum	SCAN
rs17641482	TPM2	trans	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84725800-84748000	Weak transcription	Fetal Lung	lung
2	chr7:84730200-84733400	Enhancers	HUVEC	blood vessel
3	chr7:84731400-84733800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:84731400-84734600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:84731400-84734800	Enhancers	NH-A	brain
6	chr7:84731600-84733600	Enhancers	HMEC	breast
7	chr7:84731600-84733600	Enhancers	NHDF-Ad	bronchial
8	chr7:84731600-84734800	Enhancers	Hela-S3	cervix
9	chr7:84732200-84733200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:84732400-84735200	Enhancers	Fetal Heart	heart
11	chr7:84732400-84735400	Enhancers	NHEK	skin
12	chr7:84732600-84734000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:84732600-84735400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:84732800-84733600	Enhancers	NHLF	lung
15	chr7:84732800-84734600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:84732800-84734800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:84733000-84733200	Bivalent Enhancer	Osteobl	bone
18	chr7:84733000-84733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:84733000-84733600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:84733000-84733800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:84733000-84735400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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