Variant report

Variant	esv10654
Chromosome Location	chr11:4880507-4889847
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	chr11:4884811-4885319	HepG2	liver:	n/a	chr11:4884971-4884982 chr11:4884971-4884984
2	CEBPB	chr11:4884836-4885140	H1-hESC	embryonic stem cell:	n/a	chr11:4884971-4884982 chr11:4884971-4884984
3	CEBPB	chr11:4884835-4885128	A549	lung:	n/a	chr11:4884971-4884982 chr11:4884971-4884984
4	CTCF	chr11:4881789-4881937	K562	blood:	n/a	n/a
5	CTCF	chr11:4881752-4881871	K562	blood:	n/a	n/a
6	CTCF	chr11:4889360-4889510	A549	lung:	n/a	n/a
7	E2F4	chr11:4882513-4882714	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr11:4884112-4884461	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr11:4884063-4884292	H1-hESC	embryonic stem cell:	n/a	n/a
10	HDAC2	chr11:4884009-4884429	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUN	chr11:4883703-4883897	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:4884136-4884404	H1-hESC	embryonic stem cell:	n/a	n/a
13	NANOG	chr11:4884148-4884369	H1-hESC	embryonic stem cell:	n/a	chr11:4884173-4884187
14	POLR2A	chr11:4887100-4887495	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr11:4887016-4887517	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr11:4883280-4883295	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:4886857-4886918	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:4881041-4881103	Gliobla	brain:	n/a	n/a
19	POLR2A	chr11:4887450-4887457	MCF10A-Er-Src	breast:	n/a	n/a
20	POU5F1	chr11:4884018-4884353	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr11:4884024-4884445	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3AK20	chr11:4884100-4884424	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr11:4884120-4884354	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP1	chr11:4883985-4884467	H1-hESC	embryonic stem cell:	n/a	chr11:4884084-4884096 chr11:4884085-4884099 chr11:4884084-4884096
25	SP1	chr11:4884041-4884459	H1-hESC	embryonic stem cell:	n/a	chr11:4884084-4884096 chr11:4884085-4884099 chr11:4884084-4884096
26	TCF12	chr11:4883960-4884526	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF12	chr11:4884104-4884436	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr11:4884042-4884503	H1-hESC	embryonic stem cell:	n/a	n/a
29	USF1	chr11:4884065-4884357	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr11:4884129-4884392	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr11:4884032-4884378	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr11:4884076-4884365	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	11:4886992-4893242..11:5700314-5707362	Hela-S3	cervix:
2	chr11:4884965..4887784-chr11:4890382..4892090,2	K562	blood:
3	11:4886992-4893242..11:5721056-5732713	K562	blood:
4	chr11:4887759..4889897-chr11:4893466..4895197,2	K562	blood:
5	11:4886992-4893242..11:5714465-5718134	K562	blood:

Variant related genes	Relation type
OR51H1P	TF binding region
ENSG00000132274	chromatin interactions
ENSG00000132256	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:292 , 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	rs35010910	chr11:4881010-4881011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556582900	chr11:4881011-4881012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61710756	chr11:4881020-4881021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74054606	chr11:4881079-4881080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs117385480	chr11:4881102-4881103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183742986	chr11:4881110-4881111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543264388	chr11:4881171-4881172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561325859	chr11:4881193-4881194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531905837	chr11:4881195-4881196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143159486	chr11:4881842-4881843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577470875	chr11:4882565-4882566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541141177	chr11:4882567-4882568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs137987175	chr11:4882624-4882625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529741288	chr11:4882672-4882673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs541853424	chr11:4882678-4882679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560300452	chr11:4882694-4882695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192846078	chr11:4882835-4882836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566199112	chr11:4882838-4882839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536339204	chr11:4882848-4882849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140576841	chr11:4882904-4882905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16906815	chr11:4882930-4882931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537748243	chr11:4882942-4882943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76501766	chr11:4882955-4882956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377567903	chr11:4882964-4882965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533355895	chr11:4882991-4882992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115784245	chr11:4883001-4883002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185200521	chr11:4883002-4883003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76925647	chr11:4883058-4883059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369478506	chr11:4883095-4883096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553285027	chr11:4883104-4883105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75461365	chr11:4883134-4883135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386750066	chr11:4883179-4883180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189076849	chr11:4883180-4883181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11823192	chr11:4883226-4883227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191643669	chr11:4883240-4883241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184154171	chr11:4883258-4883259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528354876	chr11:4883279-4883280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138822061	chr11:4883292-4883293	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187973735	chr11:4883322-4883323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11823220	chr11:4883342-4883343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs180885943	chr11:4883384-4883385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17250577	chr11:4883396-4883397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs4300390	chr11:4883412-4883413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571895159	chr11:4883418-4883419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1347273	chr11:4883439-4883440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538147335	chr11:4883451-4883452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12223420	chr11:4883469-4883470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537411120	chr11:4883480-4883481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1946637	chr11:4883483-4883484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571205842	chr11:4883509-4883510	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4881000-4881200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr11:4882800-4885600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:4883000-4884000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:4883000-4886000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:4883200-4883600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:4883200-4885200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:4883400-4883600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:4883400-4884400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:4883400-4886000	Enhancers	Fetal Heart	heart
10	chr11:4883600-4884000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:4883600-4884600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:4884000-4884200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:4884000-4885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:4884200-4884400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:4884400-4884600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:4884400-4884800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:4884600-4885000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:4884600-4885200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:4884600-4885200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:4884600-4886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:4884800-4885200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:4884800-4885400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:4885000-4885400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr11:4885400-4886400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:4885600-4886800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:4886000-4887000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:4886000-4887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:4886000-4887000	Weak transcription	Fetal Heart	heart
29	chr11:4886800-4887000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:4886800-4887000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:4887000-4887200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr11:4887000-4887200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:4887000-4887400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr11:4887000-4887400	Enhancers	Fetal Heart	heart

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