Variant report

Variant	rs11042002
Chromosome Location	chr11:8616646-8616647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8615283-8616659	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:8616393-8616733	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
STK33	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10160430	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10160805	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743072	0.88[EUR][1000 genomes]
rs10743074	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10743080	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10743081	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10743082	0.82[ASN][1000 genomes]
rs10769907	0.85[EUR][1000 genomes]
rs10769908	0.88[EUR][1000 genomes]
rs10769910	0.88[EUR][1000 genomes]
rs10769915	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769916	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769918	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10769921	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10769922	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10769923	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10769924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769925	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10769926	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10769927	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10769929	0.94[ASN][1000 genomes]
rs10840047	0.84[EUR][1000 genomes]
rs10840051	0.87[EUR][1000 genomes]
rs10840055	0.88[EUR][1000 genomes]
rs10840056	0.88[EUR][1000 genomes]
rs10840058	0.88[EUR][1000 genomes]
rs10840060	0.87[EUR][1000 genomes]
rs10840065	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840072	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840077	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840080	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840083	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840085	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840089	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10840091	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11041924	0.84[EUR][1000 genomes]
rs11041962	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11041974	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11041983	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11041985	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11041986	0.89[ASN][1000 genomes]
rs11041990	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041993	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041994	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041995	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041997	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11041999	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11493772	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12277932	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12576736	0.86[EUR][1000 genomes]
rs1374262	0.85[EUR][1000 genomes]
rs1446462	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1446463	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1900272	0.84[ASN][1000 genomes]
rs1900273	0.88[EUR][1000 genomes]
rs2015629	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044463	0.86[EUR][1000 genomes]
rs2289921	0.88[EUR][1000 genomes]
rs2871753	0.88[EUR][1000 genomes]
rs3969875	0.85[EUR][1000 genomes]
rs4244804	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4418812	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4475924	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4520598	0.81[ASN][1000 genomes]
rs4612809	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4620720	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4929941	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4929942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4929943	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4929944	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4929945	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4929949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6484485	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6578968	0.88[EUR][1000 genomes]
rs6578969	0.88[EUR][1000 genomes]
rs7101471	0.86[EUR][1000 genomes]
rs7112153	0.84[EUR][1000 genomes]
rs7120065	0.86[EUR][1000 genomes]
rs7127684	0.86[EUR][1000 genomes]
rs7924753	0.88[EUR][1000 genomes]
rs7934396	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935708	0.88[EUR][1000 genomes]
rs7947670	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7949017	0.89[EUR][1000 genomes]
rs7950870	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9300090	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9300091	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935370	0.84[EUR][1000 genomes]
rs9705083	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9705253	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9736791	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9737312	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9737401	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[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
rs11042002	STK33	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8616000-8616800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:8616200-8618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:8616200-8619200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:8616400-8616800	Enhancers	Brain Germinal Matrix	brain
5	chr11:8616400-8617200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:8616400-8618200	Weak transcription	A549	lung
7	chr11:8616400-8618800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:8616400-8619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:8616600-8616800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:8616600-8617000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:8616600-8617000	Active TSS	GM12878-XiMat	blood
12	chr11:8616600-8617600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:8616600-8617800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:8616600-8617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:8616600-8618000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:8616600-8618000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:8616600-8618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:8616600-8618200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:8616600-8618400	Weak transcription	Stomach Mucosa	stomach
20	chr11:8616600-8625600	Weak transcription	Rectal Smooth Muscle	rectum

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