Variant report

Variant	rs4520598
Chromosome Location	chr11:8613666-8613667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10160804	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743078	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743079	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743080	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743081	0.97[ASN][1000 genomes]
rs10743082	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769918	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10769919	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769920	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769921	0.99[ASN][1000 genomes]
rs10769922	0.99[ASN][1000 genomes]
rs10769923	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769925	0.99[ASN][1000 genomes]
rs10769926	0.99[ASN][1000 genomes]
rs10769927	0.90[ASN][1000 genomes]
rs10769929	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10840079	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840081	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840083	0.95[ASN][1000 genomes]
rs10840085	0.94[ASN][1000 genomes]
rs10840087	0.81[ASN][1000 genomes]
rs10840089	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840091	0.94[ASN][1000 genomes]
rs11041929	0.85[EUR][1000 genomes]
rs11041986	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11041990	0.89[ASN][1000 genomes]
rs11041993	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11041994	0.92[ASN][1000 genomes]
rs11041995	0.92[ASN][1000 genomes]
rs11041997	0.88[ASN][1000 genomes]
rs11042002	0.81[ASN][1000 genomes]
rs12226478	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12785939	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12805671	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374263	0.84[EUR][1000 genomes]
rs1446464	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1900272	0.87[EUR][1000 genomes]
rs2289923	0.85[EUR][1000 genomes]
rs4131072	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4244804	0.99[ASN][1000 genomes]
rs4244806	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4344491	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4405311	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4475924	0.99[ASN][1000 genomes]
rs4612809	0.99[ASN][1000 genomes]
rs4620720	0.99[ASN][1000 genomes]
rs4758067	0.85[EUR][1000 genomes]
rs4929929	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4929941	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929943	0.98[ASN][1000 genomes]
rs4929944	0.98[ASN][1000 genomes]
rs4929945	0.98[ASN][1000 genomes]
rs4929950	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6484485	0.99[ASN][1000 genomes]
rs7126013	0.85[EUR][1000 genomes]
rs7129357	0.85[EUR][1000 genomes]
rs726007	0.84[EUR][1000 genomes]
rs7929120	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7931604	0.85[EUR][1000 genomes]
rs7934396	0.81[ASN][1000 genomes]
rs9284150	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9284151	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9300088	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9300089	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9300094	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs935370	0.80[ASN][1000 genomes]
rs9705083	0.89[ASN][1000 genomes]
rs9737312	0.89[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	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	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4520598	STK33	cis	Artery Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8606200-8614800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:8606200-8614800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:8606400-8614600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:8606400-8614600	Weak transcription	Ovary	ovary
5	chr11:8606400-8614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:8606400-8615000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:8606400-8615000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:8606600-8614800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:8606600-8614800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:8608400-8615000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:8610000-8614800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:8610000-8615400	Weak transcription	Aorta	Aorta
13	chr11:8613000-8614200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:8613200-8614600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:8613600-8613800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:8613600-8613800	Enhancers	Cortex derived primary cultured neurospheres	brain

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