Variant report

Variant	rs17112888
Chromosome Location	chr1:56293375-56293376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10493183	1.00[ASN][1000 genomes]
rs10493185	1.00[ASN][1000 genomes]
rs10493187	1.00[ASN][1000 genomes]
rs10493189	1.00[ASN][1000 genomes]
rs10493190	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493191	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888940	1.00[ASN][1000 genomes]
rs10888942	1.00[ASN][1000 genomes]
rs10888947	1.00[ASN][1000 genomes]
rs10888948	1.00[ASN][1000 genomes]
rs11206673	1.00[ASN][1000 genomes]
rs11206677	1.00[ASN][1000 genomes]
rs11206680	1.00[ASN][1000 genomes]
rs11206681	1.00[ASN][1000 genomes]
rs11206689	1.00[ASN][1000 genomes]
rs11206690	1.00[ASN][1000 genomes]
rs11582662	1.00[ASN][1000 genomes]
rs12058087	1.00[ASN][1000 genomes]
rs12070494	1.00[ASN][1000 genomes]
rs12092701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118218	1.00[ASN][1000 genomes]
rs12119904	1.00[ASN][1000 genomes]
rs12120132	1.00[ASN][1000 genomes]
rs12123418	1.00[ASN][1000 genomes]
rs12123610	1.00[ASN][1000 genomes]
rs12124871	1.00[ASN][1000 genomes]
rs12138137	1.00[ASN][1000 genomes]
rs12141873	1.00[ASN][1000 genomes]
rs12145137	1.00[ASN][1000 genomes]
rs17113073	1.00[ASN][1000 genomes]
rs2067637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285922	1.00[ASN][1000 genomes]
rs55693755	1.00[ASN][1000 genomes]
rs58538058	1.00[ASN][1000 genomes]
rs59959484	1.00[ASN][1000 genomes]
rs61774839	1.00[ASN][1000 genomes]
rs61774843	1.00[ASN][1000 genomes]
rs61777585	1.00[ASN][1000 genomes]
rs61777621	1.00[ASN][1000 genomes]
rs6659096	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691673	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516605	1.00[ASN][1000 genomes]
rs7517205	1.00[ASN][1000 genomes]
rs7517995	1.00[ASN][1000 genomes]
rs7530878	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540772	1.00[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:27 , 50 per page) page: 1

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

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