Variant report

Variant	rs7120065
Chromosome Location	chr11:8484896-8484897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10160430	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10160805	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10743072	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743074	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769907	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769908	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769910	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769915	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769916	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769918	0.86[EUR][1000 genomes]
rs10769921	0.82[EUR][1000 genomes]
rs10769922	0.82[EUR][1000 genomes]
rs10769924	0.85[EUR][1000 genomes]
rs10769925	0.82[EUR][1000 genomes]
rs10769926	0.82[EUR][1000 genomes]
rs10840047	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840050	0.82[ASN][1000 genomes]
rs10840051	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840055	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840056	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840058	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840060	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840065	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840072	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840077	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840080	0.87[EUR][1000 genomes]
rs10840083	0.86[EUR][1000 genomes]
rs10840084	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10840085	0.86[EUR][1000 genomes]
rs10840087	0.86[EUR][1000 genomes]
rs11041924	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11041962	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11041974	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11041983	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11041985	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11041986	0.85[ASN][1000 genomes]
rs11041990	0.87[EUR][1000 genomes]
rs11041993	0.87[EUR][1000 genomes]
rs11041994	0.87[EUR][1000 genomes]
rs11041995	0.87[EUR][1000 genomes]
rs11041997	0.86[EUR][1000 genomes]
rs11041999	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042002	0.86[EUR][1000 genomes]
rs11493772	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576736	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1374262	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1446462	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446463	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446464	0.82[ASN][1000 genomes]
rs1900272	0.92[ASN][1000 genomes]
rs1900273	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2015629	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2044463	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289921	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289923	0.82[ASN][1000 genomes]
rs2871753	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3969875	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4244804	0.83[EUR][1000 genomes]
rs4418812	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4475924	0.83[EUR][1000 genomes]
rs4612809	0.83[EUR][1000 genomes]
rs4620720	0.83[EUR][1000 genomes]
rs4758067	0.80[ASN][1000 genomes]
rs4929942	0.85[EUR][1000 genomes]
rs4929943	0.82[EUR][1000 genomes]
rs4929944	0.82[EUR][1000 genomes]
rs4929945	0.82[EUR][1000 genomes]
rs4929949	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6484485	0.82[EUR][1000 genomes]
rs6578968	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6578969	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7101471	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7108993	0.80[EUR][1000 genomes]
rs7112153	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7118189	0.81[EUR][1000 genomes]
rs7126013	0.82[ASN][1000 genomes]
rs7127684	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7128727	0.81[EUR][1000 genomes]
rs7129564	0.81[EUR][1000 genomes]
rs7924753	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931604	0.81[ASN][1000 genomes]
rs7934396	0.84[EUR][1000 genomes]
rs7935708	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7947670	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7949017	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7950870	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9300090	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9300091	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs935370	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9705083	0.87[EUR][1000 genomes]
rs9705253	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9736791	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9737312	0.87[EUR][1000 genomes]
rs9737401	0.86[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
rs7120065	STK33	cis	Artery Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8464400-8488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8464600-8485800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:8464600-8488200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:8464600-8489000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:8464600-8495800	Weak transcription	Fetal Heart	heart
6	chr11:8474200-8491400	Weak transcription	Pancreas	Pancrea
7	chr11:8477400-8488000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:8479400-8489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:8481800-8491000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:8482000-8488400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:8483200-8485800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8483600-8491000	Weak transcription	Gastric	stomach
13	chr11:8484400-8486400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:8484600-8485200	Strong transcription	Ovary	ovary
15	chr11:8484800-8486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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