Variant report

Variant	rs4620720
Chromosome Location	chr11:8615939-8615940
allele	A/C/G
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	MAX	chr11:8615641-8616037	HepG2	liver:	n/a	chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615842-8615851 chr11:8615936-8615943
2	SIN3A	chr11:8615158-8616360	H1-hESC	embryonic stem cell:	n/a	chr11:8615843-8615852 chr11:8615845-8615854
3	POLR2A	chr11:8615513-8616122	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr11:8615545-8616079	GM12878	blood:	n/a	n/a
5	USF1	chr11:8615548-8616171	H1-hESC	embryonic stem cell:	n/a	chr11:8615843-8615854
6	TAF1	chr11:8615489-8616139	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:8615697-8616082	Gliobla	brain:	n/a	n/a
8	PAX5	chr11:8615668-8616000	GM12878	blood:	n/a	n/a
9	TAF1	chr11:8615561-8616062	GM12878	blood:	n/a	n/a
10	CHD2	chr11:8615616-8616291	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:8615770-8616123	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr11:8615534-8616030	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr11:8615520-8616218	GM12878	blood:	n/a	chr11:8615541-8615550 chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615537-8615546 chr11:8615842-8615851 chr11:8615936-8615943
14	POLR2A	chr11:8615501-8616473	GM12878	blood:	n/a	n/a
15	MAX	chr11:8615370-8616159	GM12878	blood:	n/a	chr11:8615541-8615550 chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615537-8615546 chr11:8615842-8615851 chr11:8615936-8615943
16	HEY1	chr11:8615611-8616036	HepG2	liver:	n/a	n/a
17	RAD21	chr11:8615385-8616147	H1-hESC	embryonic stem cell:	n/a	chr11:8615736-8615748 chr11:8616111-8616121
18	POLR2A	chr11:8615580-8616043	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr11:8615486-8616261	ECC-1	luminal epithelium:	n/a	chr11:8615541-8615550 chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615537-8615546 chr11:8615842-8615851 chr11:8615936-8615943
20	ELF1	chr11:8615303-8616119	GM12878	blood:	n/a	chr11:8615498-8615507 chr11:8615455-8615467 chr11:8615774-8615786
21	POLR2A	chr11:8615425-8616260	U87	brain:	n/a	n/a
22	POLR2A	chr11:8615533-8616096	GM12878	blood:	n/a	n/a
23	USF2	chr11:8615687-8616055	Hela-S3	cervix:	n/a	chr11:8615843-8615854
24	USF1	chr11:8615529-8616247	ECC-1	luminal epithelium:	n/a	chr11:8615843-8615854
25	CEBPB	chr11:8615693-8615963	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:8615543-8616202	HL-60	blood:	n/a	n/a
27	USF2	chr11:8615655-8616302	GM12878	blood:	n/a	chr11:8615843-8615854
28	MYC	chr11:8615587-8616107	H1-hESC	embryonic stem cell:	n/a	chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615842-8615851 chr11:8615936-8615943
29	USF1	chr11:8615654-8616038	HepG2	liver:	n/a	chr11:8615843-8615854
30	TBP	chr11:8615452-8616237	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr11:8615496-8616037	SK-N-SH	brain:	n/a	n/a
32	FOXM1	chr11:8615533-8616022	GM12878	blood:	n/a	n/a
33	EP300	chr11:8615575-8616409	GM12878	blood:	n/a	chr11:8615631-8615640
34	RUNX3	chr11:8615404-8616110	GM12878	blood:	n/a	n/a
35	TAF1	chr11:8615526-8616029	H1-hESC	embryonic stem cell:	n/a	n/a
36	PAX5	chr11:8615574-8615941	GM12892	blood:	n/a	n/a
37	MAX	chr11:8615546-8616180	SK-N-SH	brain:	n/a	chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615842-8615851 chr11:8615936-8615943
38	USF1	chr11:8615583-8616069	A549	lung:	n/a	chr11:8615843-8615854
39	POLR2A	chr11:8615661-8616343	GM12892	blood:	n/a	n/a
40	NFE2	chr11:8615685-8616027	GM12878	blood:	n/a	chr11:8615846-8615855
41	BHLHE40	chr11:8615614-8616035	HepG2	liver:	n/a	n/a
42	RFX5	chr11:8615389-8615944	GM12878	blood:	n/a	chr11:8615539-8615553 chr11:8615536-8615551 chr11:8615535-8615552 chr11:8615536-8615551 chr11:8615541-8615550 chr11:8615536-8615551
43	POLR2A	chr11:8615892-8616009	HUVEC	blood vessel:	n/a	n/a
44	USF1	chr11:8615544-8616158	SK-N-SH	brain:	n/a	chr11:8615843-8615854
45	POLR2A	chr11:8615798-8616121	GM12891	blood:	n/a	n/a
46	SIN3AK20	chr11:8615617-8615989	SK-N-SH	brain:	n/a	n/a
47	MAX	chr11:8615556-8616098	SK-N-SH	brain:	n/a	chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615842-8615851 chr11:8615936-8615943
48	MAX	chr11:8615487-8616244	H1-hESC	embryonic stem cell:	n/a	chr11:8615541-8615550 chr11:8615746-8615756 chr11:8615929-8615948 chr11:8615934-8615943 chr11:8615844-8615853 chr11:8615843-8615854 chr11:8615537-8615546 chr11:8615842-8615851 chr11:8615936-8615943
49	USF1	chr11:8615606-8616168	A549	lung:	n/a	chr11:8615843-8615854
50	USF1	chr11:8615454-8616151	SK-N-SH_RA	brain:	n/a	chr11:8615843-8615854

Variant related genes	Relation type
STK33	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10160430	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10160804	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10160805	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10743072	0.85[EUR][1000 genomes]
rs10743074	0.83[EUR][1000 genomes]
rs10743078	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10743079	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10743080	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10743081	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743082	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10769907	0.82[EUR][1000 genomes]
rs10769908	0.85[EUR][1000 genomes]
rs10769910	0.85[EUR][1000 genomes]
rs10769915	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10769916	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10769918	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769919	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10769920	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10769921	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769922	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769923	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10769924	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10769925	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769926	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769927	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840047	0.81[EUR][1000 genomes]
rs10840051	0.84[EUR][1000 genomes]
rs10840055	0.85[EUR][1000 genomes]
rs10840056	0.85[EUR][1000 genomes]
rs10840058	0.85[EUR][1000 genomes]
rs10840060	0.84[EUR][1000 genomes]
rs10840065	0.86[EUR][1000 genomes]
rs10840072	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840077	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840079	0.81[ASN][1000 genomes]
rs10840080	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840081	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10840083	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840084	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840087	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840089	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10840091	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11041924	0.81[EUR][1000 genomes]
rs11041962	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11041974	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11041983	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041985	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041990	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11041993	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11041994	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11041995	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11041997	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11041999	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042002	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11493772	0.84[EUR][1000 genomes]
rs12226478	0.85[ASN][1000 genomes]
rs12277932	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12576736	0.83[EUR][1000 genomes]
rs12785939	0.84[ASN][1000 genomes]
rs12805671	0.84[ASN][1000 genomes]
rs1374262	0.82[EUR][1000 genomes]
rs1446462	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1446463	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1900273	0.85[EUR][1000 genomes]
rs2015629	0.84[EUR][1000 genomes]
rs2044463	0.83[EUR][1000 genomes]
rs2289921	0.85[EUR][1000 genomes]
rs2871753	0.85[EUR][1000 genomes]
rs3969875	0.82[EUR][1000 genomes]
rs4131072	0.91[ASN][1000 genomes]
rs4244804	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244806	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4344491	0.93[ASN][1000 genomes]
rs4405311	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4418812	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4475924	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520598	0.99[ASN][1000 genomes]
rs4612809	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4929929	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4929941	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4929942	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4929943	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929944	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929945	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929949	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4929950	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6484485	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6578968	0.85[EUR][1000 genomes]
rs6578969	0.85[EUR][1000 genomes]
rs7101471	0.83[EUR][1000 genomes]
rs7112153	0.81[EUR][1000 genomes]
rs7120065	0.83[EUR][1000 genomes]
rs7127684	0.83[EUR][1000 genomes]
rs7924753	0.85[EUR][1000 genomes]
rs7929120	0.84[ASN][1000 genomes]
rs7934396	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7935708	0.85[EUR][1000 genomes]
rs7947670	0.87[EUR][1000 genomes]
rs7949017	0.86[EUR][1000 genomes]
rs9284150	0.91[ASN][1000 genomes]
rs9284151	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9300088	0.85[ASN][1000 genomes]
rs9300089	0.88[ASN][1000 genomes]
rs9300090	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9300091	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9300094	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs935370	0.88[EUR][1000 genomes]
rs9705083	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9705253	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9736791	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9737312	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9737401	0.89[AMR][1000 genomes];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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4620720	STK33	cis	Artery Tibial	GTEx
rs4620720	ENSG00000130413	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8614600-8616000	Active TSS	GM12878-XiMat	blood
2	chr11:8614600-8616400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8614600-8616400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:8614600-8616400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:8614800-8616000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:8614800-8616000	Active TSS	Hela-S3	cervix
7	chr11:8614800-8616200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:8614800-8616200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:8614800-8616200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:8614800-8616200	Flanking Active TSS	Ovary	ovary
11	chr11:8614800-8616400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:8614800-8616400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:8614800-8616600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:8615000-8616000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:8615000-8616000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:8615000-8616000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:8615000-8616000	Active TSS	NHLF	lung
18	chr11:8615000-8616200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:8615000-8616200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:8615000-8616200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:8615000-8616200	Active TSS	Fetal Kidney	kidney
22	chr11:8615000-8616200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:8615000-8616400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr11:8615000-8616400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr11:8615000-8616400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:8615000-8616400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:8615000-8616400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:8615000-8616400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:8615000-8616400	Active TSS	Fetal Intestine Large	intestine
30	chr11:8615000-8616400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:8615000-8616400	Active TSS	Right Atrium	heart
32	chr11:8615000-8616400	Active TSS	Right Ventricle	heart
33	chr11:8615200-8616000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr11:8615200-8616000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:8615200-8616000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:8615200-8616000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr11:8615200-8616000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:8615200-8616000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:8615200-8616000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr11:8615200-8616000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr11:8615200-8616000	Active TSS	Colon Smooth Muscle	Colon
42	chr11:8615200-8616000	Bivalent Enhancer	Fetal Brain Male	brain
43	chr11:8615200-8616000	Active TSS	Fetal Intestine Small	intestine
44	chr11:8615200-8616000	Bivalent/Poised TSS	Fetal Stomach	stomach
45	chr11:8615200-8616000	Active TSS	Gastric	stomach
46	chr11:8615200-8616000	Active TSS	A549	lung
47	chr11:8615200-8616000	Active TSS	HSMM	muscle
48	chr11:8615200-8616000	Bivalent/Poised TSS	HSMMtube	muscle
49	chr11:8615200-8616000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr11:8615200-8616000	Bivalent/Poised TSS	Osteobl	bone

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