Variant report

Variant	rs2023938
Chromosome Location	chr7:19036775-19036776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10241964	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10245779	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10255384	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984041	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13438248	1.00[CHD][hapmap]
rs2023937	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2107595	0.80[AFR][1000 genomes]
rs2526619	0.83[EUR][1000 genomes]
rs2717334	0.82[EUR][1000 genomes]
rs28727433	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59111453	0.82[AMR][1000 genomes]
rs7783974	0.82[AMR][1000 genomes]
rs7792656	0.84[EUR][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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv887817	chr7:19021592-19100076	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2023938	TOMM7	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19013800-19040800	Weak transcription	Aorta	Aorta
2	chr7:19015800-19042400	Weak transcription	Left Ventricle	heart
3	chr7:19033000-19038000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:19033800-19038800	Weak transcription	Placenta	Placenta
5	chr7:19034800-19041200	Weak transcription	HSMM	muscle
6	chr7:19035600-19036800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:19035800-19041000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:19036000-19041400	Weak transcription	Adipose Nuclei	Adipose
9	chr7:19036000-19053400	Weak transcription	HSMMtube	muscle
10	chr7:19036000-19055800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:19036200-19036800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:19036200-19036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:19036200-19038800	Enhancers	NHDF-Ad	bronchial
14	chr7:19036200-19040800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:19036200-19040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:19036200-19041000	Weak transcription	Osteobl	bone
17	chr7:19036400-19036800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:19036400-19036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:19036600-19036800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:19036600-19048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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