Variant report

Variant	rs4752940
Chromosome Location	chr11:46847715-46847716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46847503-46847963	PFSK-1	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46846632..46851422-chr11:46865562..46870107,6	K562	blood:
2	chr11:46842194..46844369-chr11:46847198..46849731,2	K562	blood:
3	chr11:46844063..46849810-chr11:46866303..46869226,7	MCF-7	breast:
4	chr11:46846447..46850137-chr11:46865562..46868503,5	K562	blood:
5	chr11:46838312..46841025-chr11:46845017..46847859,4	K562	blood:
6	chr11:46846489..46849488-chr11:46867125..46868928,3	MCF-7	breast:
7	chr11:46846941..46849918-chr11:46939245..46941639,2	MCF-7	breast:

No data

Variant related genes	Relation type
CKAP5	TF binding region
ENSG00000175216	Chromatin interaction
ENSG00000134569	Chromatin interaction
ENSG00000247675	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1007738	0.99[ASN][1000 genomes]
rs10734548	0.90[ASN][1000 genomes]
rs10734549	0.95[ASN][1000 genomes]
rs10742784	0.93[ASN][1000 genomes]
rs10769208	0.95[ASN][1000 genomes]
rs10769211	0.96[ASN][1000 genomes]
rs10769212	0.95[ASN][1000 genomes]
rs10838620	0.95[ASN][1000 genomes]
rs10838624	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838627	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838628	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838629	0.88[ASN][1000 genomes]
rs11038994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039014	0.95[ASN][1000 genomes]
rs11039017	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039018	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11039024	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11602036	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11604876	1.00[AFR][1000 genomes]
rs11606992	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12574512	1.00[AFR][1000 genomes]
rs12575609	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12806577	0.95[ASN][1000 genomes]
rs1551744	0.99[ASN][1000 genomes]
rs1799867	0.80[AMR][1000 genomes]
rs1809293	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2035068	0.82[ASN][1000 genomes]
rs2290883	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290884	0.95[ASN][1000 genomes]
rs2306026	0.95[ASN][1000 genomes]
rs2306027	0.83[ASN][1000 genomes]
rs2306028	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2306033	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306035	0.81[ASN][1000 genomes]
rs2306036	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2306037	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816614	0.95[ASN][1000 genomes]
rs3829940	0.96[ASN][1000 genomes]
rs4075619	0.95[ASN][1000 genomes]
rs4294527	0.94[ASN][1000 genomes]
rs4453193	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4453194	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4469848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4534535	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752931	1.00[AFR][1000 genomes]
rs4752932	0.81[EUR][1000 genomes]
rs4752933	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752941	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752946	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752947	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57704144	1.00[AFR][1000 genomes]
rs58389391	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60258676	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485692	0.91[ASN][1000 genomes]
rs6485695	0.95[ASN][1000 genomes]
rs7101374	0.95[ASN][1000 genomes]
rs7107778	0.99[ASN][1000 genomes]
rs7109707	0.95[ASN][1000 genomes]
rs7118170	0.83[ASN][1000 genomes]
rs7119247	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7480140	0.99[ASN][1000 genomes]
rs7480260	0.97[ASN][1000 genomes]
rs7929294	0.88[ASN][1000 genomes]
rs7934421	0.99[ASN][1000 genomes]
rs7940578	0.92[ASN][1000 genomes]
rs7940682	0.88[ASN][1000 genomes]
rs7941252	0.82[ASN][1000 genomes]
rs7941894	0.90[ASN][1000 genomes]
rs7941964	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7943866	0.95[ASN][1000 genomes]
rs898604	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs964551	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4752940	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46815200-46847800	Weak transcription	Gastric	stomach
2	chr11:46816400-46847800	Weak transcription	Spleen	Spleen
3	chr11:46819600-46847800	Weak transcription	Pancreas	Pancrea
4	chr11:46828800-46847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:46831400-46847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:46832000-46848000	Weak transcription	Lung	lung
7	chr11:46837600-46847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:46837800-46847800	Weak transcription	Esophagus	oesophagus
9	chr11:46837800-46847800	Weak transcription	Fetal Kidney	kidney
10	chr11:46838000-46847800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:46838000-46847800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:46838600-46847800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:46839400-46847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:46839400-46847800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:46840200-46847800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:46841000-46847800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:46841000-46853400	Weak transcription	Dnd41	blood
18	chr11:46841200-46847800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:46841200-46847800	Weak transcription	GM12878-XiMat	blood
20	chr11:46841200-46847800	Weak transcription	Hela-S3	cervix
21	chr11:46841400-46847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:46841600-46847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:46842200-46848000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:46843600-46847800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:46843600-46847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:46843600-46847800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:46843600-46847800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:46843600-46848000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:46843600-46848000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:46843800-46847800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:46845200-46848000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:46846600-46847800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:46846800-46847800	Enhancers	HepG2	liver
34	chr11:46846800-46848000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:46846800-46849000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:46847000-46847800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:46847000-46847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:46847000-46847800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:46847000-46848000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:46847400-46847800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:46847400-46847800	Enhancers	Stomach Mucosa	stomach
42	chr11:46847400-46847800	Enhancers	A549	lung
43	chr11:46847400-46847800	Enhancers	NH-A	brain
44	chr11:46847400-46848000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:46847400-46848000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:46847400-46848000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:46847400-46848000	Flanking Active TSS	NHLF	lung
48	chr11:46847400-46848200	Flanking Active TSS	HMEC	breast
49	chr11:46847400-46848600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:46847400-46848600	Active TSS	Skeletal Muscle Male	skeletal muscle

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