Variant report

Variant	esv33342
Chromosome Location	chr11:5770370-5784484
allele	n/a
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	CEBPB	chr11:5775147-5775155	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:5779380-5779530	AG09319	gingival:	n/a	n/a
3	E2F4	chr11:5783131-5784075	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr11:5771736-5772054	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr11:5782668-5782868	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr11:5770104-5770416	GM12878	blood:	n/a	chr11:5770256-5770269
7	FOXA1	chr11:5777816-5778159	T-47D	breast:	n/a	n/a
8	FOXA1	chr11:5777809-5778219	T-47D	breast:	n/a	n/a
9	GATA3	chr11:5777768-5778219	T-47D	breast:	n/a	n/a
10	GATA3	chr11:5777791-5778192	T-47D	breast:	n/a	n/a
11	JUN	chr11:5771503-5771519	HepG2	liver:	n/a	n/a
12	KAP1	chr11:5774149-5774501	K562	blood:	n/a	n/a
13	MAFF	chr11:5771106-5771329	K562	blood:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
14	MAFF	chr11:5770394-5770519	HepG2	liver:	n/a	n/a
15	MAFF	chr11:5771103-5771425	HepG2	liver:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
16	MAFK	chr11:5782122-5782194	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAFK	chr11:5771101-5771399	IMR90	lung:	n/a	chr11:5771262-5771282
18	MAFK	chr11:5771087-5771428	HepG2	liver:	n/a	chr11:5771262-5771282
19	MAFK	chr11:5770417-5770572	HepG2	liver:	n/a	chr11:5770492-5770508 chr11:5770495-5770509 chr11:5770496-5770507
20	MAFK	chr11:5771094-5771423	HepG2	liver:	n/a	chr11:5771262-5771282
21	MAFK	chr11:5771254-5771311	K562	blood:	n/a	chr11:5771262-5771282
22	POLR2A	chr11:5776600-5776613	Gliobla	brain:	n/a	n/a
23	POLR2A	chr11:5781131-5781185	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:5773275-5773378	ProgFib	skin:	n/a	n/a
25	POLR2A	chr11:5781710-5781714	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:5772463-5772472	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr11:5778291-5778439	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5076469-5081549..11:5767550-5775401	K562	blood:

Variant related genes	Relation type
OR52N4	TF binding region
OR56B2P	TF binding region
ENSG00000176787	chromatin interactions

Extended variants
information (count: 264 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201436394	chr11:5770371-5770372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2133266	chr11:5770388-5770389	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs541942693	chr11:5770407-5770408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527881319	chr11:5770467-5770468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56016218	chr11:5770468-5770469	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561254226	chr11:5770469-5770470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138924790	chr11:5770529-5770530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549784350	chr11:5770540-5770541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373902179	chr11:5770566-5770567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2133265	chr11:5770570-5770571	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs377420092	chr11:5770574-5770575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532532534	chr11:5770591-5770592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547860147	chr11:5770620-5770621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184206029	chr11:5770672-5770673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536455693	chr11:5770699-5770700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7479906	chr11:5770760-5770761	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs569985017	chr11:5770762-5770763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537317302	chr11:5770791-5770792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113542482	chr11:5770802-5770803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532770136	chr11:5770818-5770819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2343231	chr11:5770840-5770841	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189576758	chr11:5770843-5770844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376277014	chr11:5770924-5770925	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61265060	chr11:5770928-5770929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2343232	chr11:5770929-5770930	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs574407016	chr11:5770930-5770931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542827505	chr11:5770936-5770937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2880579	chr11:5770950-5770951	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567654287	chr11:5770962-5770963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182044010	chr11:5770985-5770986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576355938	chr11:5771057-5771058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543693090	chr11:5771110-5771111	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11038920	chr11:5771170-5771171	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34305270	chr11:5771177-5771178	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532535950	chr11:5771186-5771187	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs547429491	chr11:5771204-5771205	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs147496798	chr11:5771269-5771270	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186434285	chr11:5771276-5771277	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs76470370	chr11:5771278-5771279	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138483053	chr11:5771291-5771292	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569080652	chr11:5771325-5771326	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs116703913	chr11:5771356-5771357	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567082657	chr11:5771530-5771531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534618530	chr11:5771586-5771587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552657914	chr11:5771593-5771594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376496873	chr11:5771603-5771604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs199970580	chr11:5771659-5771660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369984568	chr11:5771661-5771662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201624442	chr11:5771678-5771679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12222371	chr11:5771697-5771698	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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