Variant report

Variant	nsv8794
Chromosome Location	chr11:18933803-18949957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:18946494-18946596	HepG2	liver:	n/a	chr11:18946576-18946587
2	CEBPB	chr11:18943007-18943263	K562	blood:	n/a	n/a
3	CEBPD	chr11:18942867-18943456	K562	blood:	n/a	n/a
4	CTCF	chr11:18949060-18949210	RPTEC	kidney:	n/a	n/a
5	CTCF	chr11:18949220-18949370	HMEC	breast:	n/a	n/a
6	CTCF	chr11:18943965-18943999	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:18949130-18949280	K562	blood:	n/a	n/a
8	CTCF	chr11:18949200-18949350	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr11:18944630-18944650	GM20000	blood:	n/a	n/a
10	CTCF	chr11:18949140-18949290	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr11:18949100-18949250	RPTEC	kidney:	n/a	n/a
12	CTCF	chr11:18949060-18949210	NHEK	skin:	n/a	n/a
13	CTCF	chr11:18949160-18949310	HMEC	breast:	n/a	n/a
14	CTCF	chr11:18949160-18949310	NHEK	skin:	n/a	n/a
15	CTCF	chr11:18949226-18949297	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:18944088-18944127	GM20000	blood:	n/a	n/a
17	CTCF	chr11:18949082-18949341	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F4	chr11:18949193-18949402	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr11:18940787-18941074	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr11:18941547-18941798	GM12878	blood:	n/a	chr11:18941708-18941719
21	EBF1	chr11:18941539-18941924	GM12878	blood:	n/a	chr11:18941708-18941719
22	EBF1	chr11:18941597-18941799	GM12878	blood:	n/a	chr11:18941708-18941719
23	EP300	chr11:18949205-18949321	K562	blood:	n/a	n/a
24	FOS	chr11:18949209-18949453	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA2	chr11:18943647-18943785	SH-SY5Y	brain:	n/a	n/a
26	GATA2	chr11:18942864-18943405	K562	blood:	n/a	n/a
27	GATA3	chr11:18935296-18935542	SH-SY5Y	brain:	n/a	n/a
28	IRF1	chr11:18944314-18944316	K562	blood:	n/a	n/a
29	JUN	chr11:18949699-18949890	K562	blood:	n/a	n/a
30	MAFK	chr11:18947955-18948052	HepG2	liver:	n/a	n/a
31	MAFK	chr11:18940601-18940886	HepG2	liver:	n/a	n/a
32	MXI1	chr11:18949266-18949311	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr11:18942506-18942514	MCF-7	breast:	n/a	n/a
34	MYC	chr11:18943031-18943275	K562	blood:	n/a	n/a
35	MYC	chr11:18943309-18943412	H1-hESC	embryonic stem cell:	n/a	n/a
36	NR2F2	chr11:18942971-18943357	K562	blood:	n/a	n/a
37	PBX3	chr11:18939968-18940081	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:18934642-18934690	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:18934711-18934744	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:18935427-18935624	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:18942739-18942823	A549	lung:	n/a	n/a
42	POLR2A	chr11:18943012-18943073	MCF-7	breast:	n/a	n/a
43	POLR2A	chr11:18943382-18943417	Gliobla	brain:	n/a	n/a
44	POLR2A	chr11:18943217-18943279	MCF-7	breast:	n/a	n/a
45	POLR2A	chr11:18943154-18943407	A549	lung:	n/a	n/a
46	POLR2A	chr11:18942558-18942559	Gliobla	brain:	n/a	n/a
47	POLR2A	chr11:18943116-18943126	A549	lung:	n/a	n/a
48	POLR2A	chr11:18942396-18942570	A549	lung:	n/a	n/a
49	POLR2A	chr11:18942736-18943010	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:18942898-18942903	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18948757..18949726-chr11:19092570..19093333,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255536	TF binding region

Extended variants
information (count: 219 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576019185	chr11:18934032-18934033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138517980	chr11:18934061-18934062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531948846	chr11:18934078-18934079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550172015	chr11:18934107-18934108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570207952	chr11:18934123-18934124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537795006	chr11:18934139-18934140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186165801	chr11:18934228-18934229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567875474	chr11:18934239-18934240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192089837	chr11:18934257-18934258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182079694	chr11:18934323-18934324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578150712	chr11:18934339-18934340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538986235	chr11:18934363-18934364	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557370007	chr11:18934382-18934383	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575436281	chr11:18934384-18934385	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372024258	chr11:18934392-18934393	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187633409	chr11:18934440-18934441	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566533150	chr11:18934442-18934443	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572675303	chr11:18934443-18934444	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540055276	chr11:18934449-18934450	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs564599554	chr11:18934488-18934489	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111365015	chr11:18934491-18934492	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs533665298	chr11:18934549-18934550	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532081377	chr11:18934592-18934593	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs543861823	chr11:18934601-18934602	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562537437	chr11:18934633-18934634	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531089854	chr11:18934672-18934673	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs145525481	chr11:18934687-18934688	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559839709	chr11:18934711-18934712	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs116767581	chr11:18934716-18934717	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547216286	chr11:18934739-18934740	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs571763476	chr11:18934761-18934762	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539174278	chr11:18934782-18934783	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558676174	chr11:18934828-18934829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs576628835	chr11:18934829-18934830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557065571	chr11:18934843-18934844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs1825287	chr11:18934875-18934876	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549377854	chr11:18935357-18935358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs144751233	chr11:18935362-18935363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs186897085	chr11:18935364-18935365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs567956594	chr11:18935380-18935381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576152414	chr11:18935453-18935454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs190165146	chr11:18935454-18935455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533874568	chr11:18935470-18935471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs182741801	chr11:18935490-18935491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs150642684	chr11:18935507-18935508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs78728960	chr11:18935568-18935569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs556183379	chr11:18935582-18935583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532707225	chr11:18935942-18935943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs139817744	chr11:18935995-18935996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs78745071	chr11:18936008-18936009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18934000-18934600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:18934200-18934400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:18934200-18934600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:18934400-18934800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:18946600-18947000	Enhancers	NHEK	skin
6	chr11:18947000-18949000	Weak transcription	NHEK	skin
7	chr11:18949000-18949800	Enhancers	NHEK	skin

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