Variant report

Variant	rs2137589
Chromosome Location	chr13:37782714-37782715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11147638	0.89[EUR][1000 genomes]
rs12716673	0.93[ASN][1000 genomes]
rs12871615	0.86[ASN][1000 genomes]
rs1324026	0.83[EUR][1000 genomes]
rs1324027	0.83[EUR][1000 genomes]
rs1324028	0.83[EUR][1000 genomes]
rs1324031	0.82[EUR][1000 genomes]
rs1324035	0.82[EUR][1000 genomes]
rs1324036	0.82[EUR][1000 genomes]
rs1359212	0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1408229	0.82[EUR][1000 genomes]
rs1591587	0.93[ASN][1000 genomes]
rs17055062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17224133	0.96[EUR][1000 genomes]
rs1853578	0.81[EUR][1000 genomes]
rs1853579	0.80[EUR][1000 genomes]
rs1853580	0.83[EUR][1000 genomes]
rs1924451	0.82[EUR][1000 genomes]
rs1998568	0.82[EUR][1000 genomes]
rs1998569	0.82[EUR][1000 genomes]
rs1998570	0.82[EUR][1000 genomes]
rs2137588	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2147180	0.83[EUR][1000 genomes]
rs2147182	0.83[EUR][1000 genomes]
rs2209243	0.82[EUR][1000 genomes]
rs2209244	0.82[EUR][1000 genomes]
rs2224849	0.82[EUR][1000 genomes]
rs2323441	0.82[EUR][1000 genomes]
rs2323445	0.82[EUR][1000 genomes]
rs4245381	0.83[EUR][1000 genomes]
rs4245382	0.82[EUR][1000 genomes]
rs4341644	0.82[EUR][1000 genomes]
rs4359318	0.83[EUR][1000 genomes]
rs4414353	0.96[EUR][1000 genomes]
rs4943453	0.83[EUR][1000 genomes]
rs4943455	0.83[EUR][1000 genomes]
rs4943456	0.82[EUR][1000 genomes]
rs4943457	0.82[EUR][1000 genomes]
rs4943459	0.81[EUR][1000 genomes]
rs4943460	0.82[EUR][1000 genomes]
rs6563520	0.82[EUR][1000 genomes]
rs8000449	0.88[ASN][1000 genomes]
rs8001049	0.88[ASN][1000 genomes]
rs8001122	0.90[EUR][1000 genomes]
rs9315474	0.96[EUR][1000 genomes]
rs9315476	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9315477	0.82[EUR][1000 genomes]
rs9532012	0.92[ASN][1000 genomes]
rs9532015	0.93[ASN][1000 genomes]
rs9532016	0.93[ASN][1000 genomes]
rs9532019	0.82[EUR][1000 genomes]
rs9532021	0.82[EUR][1000 genomes]
rs9547747	0.83[EUR][1000 genomes]
rs9547748	0.82[EUR][1000 genomes]
rs9547750	0.86[ASN][1000 genomes]
rs9547751	0.82[EUR][1000 genomes]
rs9547759	0.86[ASN][1000 genomes]
rs9566193	0.96[EUR][1000 genomes]
rs9566194	0.96[EUR][1000 genomes]
rs9566195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576209	0.96[EUR][1000 genomes]
rs9576210	0.96[EUR][1000 genomes]
rs9576211	0.96[EUR][1000 genomes]
rs9576212	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576215	0.96[EUR][1000 genomes]
rs9576216	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576217	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576218	0.94[EUR][1000 genomes]
rs9576219	0.94[EUR][1000 genomes]
rs9603148	0.93[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv561493	chr13:37782714-37822869	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2137589	ZAR1L	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37773200-37783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:37777400-37783200	Weak transcription	NHDF-Ad	bronchial
3	chr13:37782000-37784600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:37782400-37782800	Enhancers	Osteobl	bone
5	chr13:37782600-37782800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:37782600-37785000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:37782600-37785200	Weak transcription	Hela-S3	cervix

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