Variant report

Variant	rs4929944
Chromosome Location	chr11:8625441-8625442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8624366..8626614-chr11:8629060..8630632,2	K562	blood:
2	chr11:8386819..8387384-chr11:8625276..8626048,2	K562	blood:
3	chr11:8614329..8617137-chr11:8624383..8625976,2	K562	blood:
4	chr11:8625273..8626112-chr11:8816054..8816907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction
ENSG00000130413	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10160430	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10160804	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10160805	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10743072	0.84[EUR][1000 genomes]
rs10743074	0.82[EUR][1000 genomes]
rs10743078	0.90[ASN][1000 genomes]
rs10743079	0.90[ASN][1000 genomes]
rs10743080	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10743081	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743082	0.99[ASN][1000 genomes]
rs10769907	0.82[EUR][1000 genomes]
rs10769908	0.84[EUR][1000 genomes]
rs10769910	0.84[EUR][1000 genomes]
rs10769915	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10769916	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10769918	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769919	0.92[ASN][1000 genomes]
rs10769920	0.91[ASN][1000 genomes]
rs10769921	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769922	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769923	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10769924	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10769925	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769926	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769927	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840047	0.81[EUR][1000 genomes]
rs10840051	0.84[EUR][1000 genomes]
rs10840055	0.83[EUR][1000 genomes]
rs10840056	0.83[EUR][1000 genomes]
rs10840058	0.84[EUR][1000 genomes]
rs10840060	0.84[EUR][1000 genomes]
rs10840065	0.85[EUR][1000 genomes]
rs10840072	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10840077	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10840079	0.81[ASN][1000 genomes]
rs10840080	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10840081	0.93[ASN][1000 genomes]
rs10840083	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840084	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10840085	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840087	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840089	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10840091	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11041924	0.81[EUR][1000 genomes]
rs11041962	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11041974	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11041983	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11041985	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11041990	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11041993	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11041994	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11041995	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11041997	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11041999	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042002	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11493772	0.83[EUR][1000 genomes]
rs12226478	0.85[ASN][1000 genomes]
rs12277932	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12576736	0.82[EUR][1000 genomes]
rs12785939	0.83[ASN][1000 genomes]
rs12805671	0.83[ASN][1000 genomes]
rs1374262	0.82[EUR][1000 genomes]
rs1446462	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1446463	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1900273	0.84[EUR][1000 genomes]
rs2015629	0.81[EUR][1000 genomes]
rs2044463	0.82[EUR][1000 genomes]
rs2289921	0.83[EUR][1000 genomes]
rs2871753	0.84[EUR][1000 genomes]
rs3969875	0.81[EUR][1000 genomes]
rs4131072	0.90[ASN][1000 genomes]
rs4244804	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4244806	0.91[ASN][1000 genomes]
rs4344491	0.92[ASN][1000 genomes]
rs4405311	0.87[ASN][1000 genomes]
rs4418812	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4475924	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4520598	0.98[ASN][1000 genomes]
rs4612809	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4620720	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929929	0.92[ASN][1000 genomes]
rs4929941	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4929942	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4929943	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4929945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4929949	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4929950	0.91[ASN][1000 genomes]
rs6484485	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6578968	0.84[EUR][1000 genomes]
rs6578969	0.84[EUR][1000 genomes]
rs7101471	0.82[EUR][1000 genomes]
rs7120065	0.82[EUR][1000 genomes]
rs7127684	0.82[EUR][1000 genomes]
rs7924753	0.84[EUR][1000 genomes]
rs7929120	0.83[ASN][1000 genomes]
rs7934396	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7935708	0.84[EUR][1000 genomes]
rs7947670	0.85[EUR][1000 genomes]
rs7949017	0.84[EUR][1000 genomes]
rs7950870	0.80[AMR][1000 genomes]
rs9284150	0.90[ASN][1000 genomes]
rs9284151	0.90[ASN][1000 genomes]
rs9300088	0.85[ASN][1000 genomes]
rs9300089	0.87[ASN][1000 genomes]
rs9300090	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9300091	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9300094	0.89[ASN][1000 genomes]
rs935370	0.86[EUR][1000 genomes]
rs9705083	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9705253	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9736791	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9737312	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9737401	0.91[AMR][1000 genomes];0.85[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	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
rs4929944	STK33	cis	Artery Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8616600-8625600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:8623200-8625800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:8623400-8634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:8623600-8625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:8623600-8632000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:8625000-8625800	Enhancers	A549	lung
7	chr11:8625200-8625600	Enhancers	Hela-S3	cervix
8	chr11:8625200-8626200	Enhancers	NHEK	skin
9	chr11:8625200-8626800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:8625200-8626800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:8625200-8626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:8625200-8626800	Enhancers	NHDF-Ad	bronchial
13	chr11:8625200-8626800	Enhancers	NHLF	lung
14	chr11:8625200-8626800	Enhancers	Osteobl	bone
15	chr11:8625200-8627600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:8625200-8627800	Enhancers	HMEC	breast
17	chr11:8625200-8628000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:8625200-8628600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:8625400-8625600	Bivalent Enhancer	K562	blood
20	chr11:8625400-8625800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:8625400-8626000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:8625400-8626000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:8625400-8626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:8625400-8626000	Enhancers	GM12878-XiMat	blood
25	chr11:8625400-8627800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:8625400-8628400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:8625400-8628400	Enhancers	HSMM	muscle

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