Variant report

Variant	rs7949017
Chromosome Location	chr11:8492127-8492128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10160430	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10160805	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10743072	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743074	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743081	0.81[EUR][1000 genomes]
rs10769907	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769908	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769910	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769915	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10769916	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10769918	0.88[EUR][1000 genomes]
rs10769921	0.84[EUR][1000 genomes]
rs10769922	0.84[EUR][1000 genomes]
rs10769924	0.87[EUR][1000 genomes]
rs10769925	0.84[EUR][1000 genomes]
rs10769926	0.84[EUR][1000 genomes]
rs10840047	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840050	0.83[ASN][1000 genomes]
rs10840051	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840055	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840056	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840058	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840060	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840065	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840072	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840077	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840080	0.90[EUR][1000 genomes]
rs10840083	0.88[EUR][1000 genomes]
rs10840084	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840085	0.88[EUR][1000 genomes]
rs10840087	0.89[EUR][1000 genomes]
rs10840091	0.82[EUR][1000 genomes]
rs11041924	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11041962	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11041974	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11041983	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11041985	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11041986	0.83[ASN][1000 genomes]
rs11041990	0.90[EUR][1000 genomes]
rs11041993	0.90[EUR][1000 genomes]
rs11041994	0.90[EUR][1000 genomes]
rs11041995	0.90[EUR][1000 genomes]
rs11041997	0.88[EUR][1000 genomes]
rs11041999	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042002	0.89[EUR][1000 genomes]
rs11493772	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576736	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1374262	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1446462	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1446463	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1900272	0.89[ASN][1000 genomes]
rs1900273	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2015629	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2044463	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2289921	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289923	0.80[ASN][1000 genomes]
rs2871753	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3969875	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4244804	0.86[EUR][1000 genomes]
rs4418812	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4475924	0.86[EUR][1000 genomes]
rs4612809	0.86[EUR][1000 genomes]
rs4620720	0.86[EUR][1000 genomes]
rs4929942	0.88[EUR][1000 genomes]
rs4929943	0.85[EUR][1000 genomes]
rs4929944	0.84[EUR][1000 genomes]
rs4929945	0.84[EUR][1000 genomes]
rs4929949	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6484485	0.84[EUR][1000 genomes]
rs6578968	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6578969	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7101471	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108993	0.81[EUR][1000 genomes]
rs7112153	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118189	0.81[EUR][1000 genomes]
rs7120065	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126013	0.80[ASN][1000 genomes]
rs7127684	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7128727	0.81[EUR][1000 genomes]
rs7129564	0.81[EUR][1000 genomes]
rs7924753	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7934396	0.86[EUR][1000 genomes]
rs7935708	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7947670	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7950870	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9300090	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9300091	0.92[EUR][1000 genomes]
rs935370	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9705083	0.89[EUR][1000 genomes]
rs9705253	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9736791	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9737312	0.90[EUR][1000 genomes]
rs9737401	0.89[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	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv32551	chr11:8457023-8534642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7949017	STK33	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8464600-8495800	Weak transcription	Fetal Heart	heart
2	chr11:8488200-8492600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:8490000-8497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:8490000-8497600	Weak transcription	Ovary	ovary
5	chr11:8491000-8492400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:8491200-8492600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:8491400-8492200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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