Variant report

Variant	rs1346789
Chromosome Location	chr2:56092052-56092053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10496051	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10496052	0.84[EUR][1000 genomes]
rs11125602	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11125606	0.84[AMR][1000 genomes]
rs12464737	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12615158	0.84[AMR][1000 genomes]
rs1430202	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17047234	0.81[EUR][1000 genomes]
rs17369648	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1946545	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1985163	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2009262	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3791675	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs3791679	0.95[CEU][hapmap];0.94[CHB][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4146921	0.95[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4146922	0.95[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4347871	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58027672	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58680090	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59556444	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59985551	0.92[AMR][1000 genomes]
rs62164463	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62167713	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6724369	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7560657	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7563032	0.95[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7591694	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs782620	1.00[ASW][hapmap]

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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1346789	ASB3	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56088600-56092400	Enhancers	HUVEC	blood vessel
2	chr2:56089200-56095000	Weak transcription	Aorta	Aorta
3	chr2:56089200-56097000	Weak transcription	Lung	lung
4	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
5	chr2:56089400-56093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:56089400-56097000	Weak transcription	Right Atrium	heart
7	chr2:56089600-56092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:56089600-56097000	Weak transcription	HSMMtube	muscle
9	chr2:56089800-56092600	Weak transcription	HSMM	muscle
10	chr2:56089800-56098000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
12	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
13	chr2:56090400-56094800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:56090800-56092200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:56090800-56092400	Weak transcription	NHLF	lung
16	chr2:56090800-56092600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:56090800-56092600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:56090800-56092600	Weak transcription	HMEC	breast
19	chr2:56090800-56092800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:56090800-56094200	Weak transcription	NHEK	skin
21	chr2:56090800-56094800	Weak transcription	Placenta	Placenta
22	chr2:56090800-56095000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:56091000-56092400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:56091000-56092400	Weak transcription	Osteobl	bone
25	chr2:56091000-56093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:56091200-56092400	Weak transcription	NH-A	brain
27	chr2:56091200-56102600	Weak transcription	Hela-S3	cervix
28	chr2:56091800-56092600	Weak transcription	Brain Anterior Caudate	brain
29	chr2:56091800-56092800	Enhancers	Ovary	ovary
30	chr2:56091800-56093000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:56091800-56093000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:56092000-56092400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:56092000-56093400	Enhancers	A549	lung
34	chr2:56092000-56093600	Enhancers	NHDF-Ad	bronchial
35	chr2:56092000-56099200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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