Variant report

Variant	rs3934487
Chromosome Location	chr1:56292866-56292867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10158230	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11206669	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11206670	0.84[ASN][1000 genomes]
rs11206671	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12058859	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12132347	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12411257	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12727910	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12728204	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3924189	0.82[ASN][1000 genomes]
rs3935996	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4540693	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4589149	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7531257	0.87[EUR][1000 genomes]
rs7539074	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7549389	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv1002958	chr1:56278696-56295112	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56283000-56293000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:56289800-56293000	Weak transcription	NH-A	brain
3	chr1:56290800-56293000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:56290800-56293800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:56290800-56294000	Enhancers	NHDF-Ad	bronchial
6	chr1:56290800-56294200	Enhancers	NHLF	lung
7	chr1:56291200-56294200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:56291200-56294400	Enhancers	Placenta	Placenta
9	chr1:56291400-56293800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:56291600-56294600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:56292000-56293600	Enhancers	HSMMtube	muscle
12	chr1:56292000-56294000	Enhancers	Fetal Stomach	stomach
13	chr1:56292000-56294400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:56292000-56294400	Enhancers	Hela-S3	cervix
15	chr1:56292000-56296400	Weak transcription	Fetal Lung	lung
16	chr1:56292200-56293800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:56292400-56293800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:56292400-56293800	Enhancers	HSMM	muscle
19	chr1:56292400-56293800	Enhancers	Osteobl	bone
20	chr1:56292400-56294000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:56292400-56299400	Weak transcription	Fetal Kidney	kidney
22	chr1:56292600-56293400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:56292800-56293200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:56292800-56294200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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