Variant report

Variant	rs7480260
Chromosome Location	chr11:46843577-46843578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2B	chr11:46843237-46843602	K562	blood:	n/a	n/a
2	STAT3	chr11:46843402-46843601	MCF10A-Er-Src	breast:	n/a	n/a
3	USF2	chr11:46843237-46843601	K562	blood:	n/a	n/a
4	GTF2F1	chr11:46843239-46843605	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr11:46843234-46843605	K562	blood:	n/a	n/a
6	ZNF143	chr11:46843236-46843601	K562	blood:	n/a	n/a
7	NFYA	chr11:46843235-46843604	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr11:46843235-46843601	K562	blood:	n/a	n/a
9	CEBPB	chr11:46843238-46843613	K562	blood:	n/a	chr11:46843405-46843416
10	TBL1XR1	chr11:46843234-46843609	K562	blood:	n/a	n/a
11	SMC3	chr11:46843239-46843609	GM12878	blood:	n/a	n/a
12	MAZ	chr11:46843238-46843607	Hela-S3	cervix:	n/a	n/a
13	NFYA	chr11:46843235-46843604	GM12878	blood:	n/a	n/a
14	MAFK	chr11:46843235-46843602	K562	blood:	n/a	n/a
15	EP300	chr11:46843240-46843603	K562	blood:	n/a	n/a
16	ELK1	chr11:46843237-46843602	Hela-S3	cervix:	n/a	n/a
17	USF2	chr11:46843358-46843608	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr11:46843234-46843609	GM12878	blood:	n/a	n/a
19	CUX1	chr11:46843233-46843605	K562	blood:	n/a	n/a
20	BACH1	chr11:46843237-46843607	K562	blood:	n/a	n/a
21	NFYB	chr11:46843235-46843602	Hela-S3	cervix:	n/a	n/a
22	NFYB	chr11:46843235-46843603	GM12878	blood:	n/a	n/a
23	CHD2	chr11:46843235-46843603	Hela-S3	cervix:	n/a	n/a
24	RFX5	chr11:46843401-46843605	K562	blood:	n/a	n/a
25	WRNIP1	chr11:46843234-46843602	GM12878	blood:	n/a	n/a
26	BHLHE40	chr11:46843237-46843607	K562	blood:	n/a	n/a
27	CHD2	chr11:46843238-46843605	K562	blood:	n/a	n/a
28	BRCA1	chr11:46843236-46843602	Hela-S3	cervix:	n/a	n/a
29	CUX1	chr11:46843233-46843611	GM12878	blood:	n/a	n/a
30	RFX5	chr11:46843234-46843611	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:46843237-46843608	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:46843177-46843587	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:46843405-46843647	GM12878	blood:	n/a	n/a
34	RFX5	chr11:46843238-46843604	HepG2	liver:	n/a	n/a
35	ELK1	chr11:46843233-46843605	K562	blood:	n/a	n/a
36	GTF2F1	chr11:46843233-46843604	H1-hESC	embryonic stem cell:	n/a	n/a
37	GTF2F1	chr11:46843236-46843607	K562	blood:	n/a	n/a
38	ELK1	chr11:46843235-46843604	GM12878	blood:	n/a	n/a
39	TCF7L2	chr11:46843235-46843603	Hela-S3	cervix:	n/a	n/a
40	ZNF143	chr11:46843237-46843602	Hela-S3	cervix:	n/a	n/a
41	USF2	chr11:46843237-46843609	GM12878	blood:	n/a	n/a
42	ZC3H11A	chr11:46843236-46843601	K562	blood:	n/a	n/a
43	MXI1	chr11:46843239-46843606	K562	blood:	n/a	n/a
44	RCOR1	chr11:46843240-46843608	Hela-S3	cervix:	n/a	n/a
45	IRF3	chr11:46843238-46843607	GM12878	blood:	n/a	n/a
46	EP300	chr11:46843237-46843609	HepG2	liver:	n/a	n/a
47	CEBPB	chr11:46843401-46843612	HepG2	liver:	n/a	chr11:46843405-46843416
48	RCOR1	chr11:46843233-46843607	K562	blood:	n/a	n/a
49	SMC3	chr11:46843236-46843606	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46842194..46844369-chr11:46847198..46849731,2	K562	blood:
2	chr11:46842194..46845139-chr11:46848231..46850202,2	K562	blood:

No data

Variant related genes	Relation type
CKAP5	TF binding region
ENSG00000175216	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1007738	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10734548	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10734549	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10742784	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769208	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769211	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769212	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838620	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838624	0.94[ASN][1000 genomes]
rs10838627	0.87[ASN][1000 genomes]
rs10838628	0.87[ASN][1000 genomes]
rs10838629	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038994	0.96[ASN][1000 genomes]
rs11038999	0.97[ASN][1000 genomes]
rs11039002	0.97[ASN][1000 genomes]
rs11039014	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039017	0.87[ASN][1000 genomes]
rs11039018	0.81[ASN][1000 genomes]
rs11602036	0.90[ASN][1000 genomes]
rs12575609	0.93[ASN][1000 genomes]
rs12806577	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1551744	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809293	0.94[ASN][1000 genomes]
rs2035068	0.82[ASN][1000 genomes]
rs2290883	0.94[ASN][1000 genomes]
rs2290884	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306026	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306027	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2306028	0.94[ASN][1000 genomes]
rs2306033	0.94[ASN][1000 genomes]
rs2306035	0.81[ASN][1000 genomes]
rs2306036	0.81[ASN][1000 genomes]
rs2306037	0.80[ASN][1000 genomes]
rs3816614	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829940	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4075619	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4294527	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4453193	0.90[ASN][1000 genomes]
rs4453194	0.86[ASN][1000 genomes]
rs4469848	0.96[ASN][1000 genomes]
rs4534535	0.90[ASN][1000 genomes]
rs4752933	0.92[ASN][1000 genomes]
rs4752936	0.96[ASN][1000 genomes]
rs4752940	0.97[ASN][1000 genomes]
rs4752941	0.94[ASN][1000 genomes]
rs4752946	0.94[ASN][1000 genomes]
rs4752947	0.94[ASN][1000 genomes]
rs60258676	0.94[ASN][1000 genomes]
rs6485692	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6485695	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7101374	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107778	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7109707	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7118170	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7119247	0.86[ASN][1000 genomes]
rs7480140	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929294	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934421	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7940578	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7940682	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7941252	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7941894	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7941964	0.92[ASN][1000 genomes]
rs7943866	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs898604	0.81[ASN][1000 genomes]
rs964551	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
3	chr11:46812000-46847600	Weak transcription	Right Ventricle	heart
4	chr11:46814600-46845800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:46815200-46847800	Weak transcription	Gastric	stomach
6	chr11:46816400-46847800	Weak transcription	Spleen	Spleen
7	chr11:46818800-46846800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:46819000-46847400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:46819200-46847600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:46819600-46847600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:46819600-46847800	Weak transcription	Pancreas	Pancrea
12	chr11:46819800-46847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:46820800-46847600	Weak transcription	Small Intestine	intestine
14	chr11:46821600-46847600	Weak transcription	Psoas Muscle	Psoas
15	chr11:46824200-46847600	Weak transcription	Right Atrium	heart
16	chr11:46828800-46847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:46830400-46847400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:46831200-46847600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:46831400-46847400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:46831400-46847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:46831800-46846800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:46831800-46846800	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:46832000-46847000	Weak transcription	Brain Anterior Caudate	brain
24	chr11:46832000-46848000	Weak transcription	Lung	lung
25	chr11:46832200-46847600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:46832400-46847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:46834600-46847600	Weak transcription	Fetal Intestine Small	intestine
28	chr11:46835400-46847600	Weak transcription	Fetal Intestine Large	intestine
29	chr11:46836400-46847600	Weak transcription	Brain Substantia Nigra	brain
30	chr11:46837600-46847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:46837600-46847600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:46837600-46847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:46837800-46847000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:46837800-46847400	Weak transcription	Thymus	Thymus
35	chr11:46837800-46847600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:46837800-46847600	Weak transcription	Aorta	Aorta
37	chr11:46837800-46847800	Weak transcription	Esophagus	oesophagus
38	chr11:46837800-46847800	Weak transcription	Fetal Kidney	kidney
39	chr11:46838000-46845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:46838000-46845800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:46838000-46847000	Weak transcription	NHLF	lung
42	chr11:46838000-46847400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:46838000-46847400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:46838000-46847400	Weak transcription	NH-A	brain
45	chr11:46838000-46847600	Weak transcription	Primary B cells from cord blood	blood
46	chr11:46838000-46847600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:46838000-46847600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:46838000-46847600	Weak transcription	Fetal Brain Male	brain
49	chr11:46838000-46847600	Weak transcription	Ovary	ovary
50	chr11:46838000-46847600	Weak transcription	Rectal Mucosa Donor 29	rectum

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