Variant report

Variant	esv1820695
Chromosome Location	chr9:43032284-43066175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43040860-43041209	GM12878	blood:	n/a	n/a
2	BATF	chr9:43041329-43041687	GM12878	blood:	n/a	n/a
3	BATF	chr9:43040825-43041252	GM12878	blood:	n/a	n/a
4	BATF	chr9:43041299-43041619	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:43034149-43034320	GM12878	blood:	n/a	n/a
6	BHLHE40	chr9:43054782-43054993	HepG2	liver:	n/a	n/a
7	CTCF	chr9:43052535-43052619	GM13976	blood:	n/a	n/a
8	CTCF	chr9:43065071-43065092	Lung_OC	lung:	n/a	n/a
9	CTCF	chr9:43043396-43043431	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr9:43040467-43040526	LNCaP	prostate:	n/a	n/a
11	EBF1	chr9:43040739-43041103	GM12878	blood:	n/a	n/a
12	EBF1	chr9:43040673-43041034	GM12878	blood:	n/a	n/a
13	EP300	chr9:43057752-43058055	GM12878	blood:	n/a	n/a
14	EP300	chr9:43059234-43059491	GM12878	blood:	n/a	n/a
15	EP300	chr9:43047447-43047957	GM12878	blood:	n/a	n/a
16	FOSL2	chr9:43064113-43064400	HepG2	liver:	n/a	n/a
17	FOSL2	chr9:43043687-43044021	HepG2	liver:	n/a	n/a
18	FOSL2	chr9:43050704-43050922	HepG2	liver:	n/a	n/a
19	FOSL2	chr9:43059298-43059625	HepG2	liver:	n/a	n/a
20	FOSL2	chr9:43033453-43033684	HepG2	liver:	n/a	n/a
21	FOSL2	chr9:43043636-43044033	HepG2	liver:	n/a	n/a
22	FOSL2	chr9:43060433-43060673	HepG2	liver:	n/a	n/a
23	FOXA1	chr9:43043610-43044115	HepG2	liver:	n/a	n/a
24	GABPA	chr9:43059202-43059431	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr9:43053319-43053522	Hela-S3	cervix:	n/a	n/a
26	IRF4	chr9:43040755-43041266	GM12878	blood:	n/a	n/a
27	IRF4	chr9:43041258-43041682	GM12878	blood:	n/a	n/a
28	IRF4	chr9:43040785-43041144	GM12878	blood:	n/a	n/a
29	IRF4	chr9:43046786-43047118	GM12878	blood:	n/a	n/a
30	JUND	chr9:43034847-43034964	HepG2	liver:	n/a	n/a
31	JUND	chr9:43063252-43063447	HepG2	liver:	n/a	n/a
32	JUND	chr9:43043730-43044018	HepG2	liver:	n/a	n/a
33	PAX5	chr9:43031968-43032386	GM12878	blood:	n/a	n/a
34	PAX5	chr9:43035006-43035547	GM12878	blood:	n/a	n/a
35	PAX5	chr9:43041389-43041546	GM12878	blood:	n/a	n/a
36	PAX5	chr9:43051787-43052133	GM12878	blood:	n/a	n/a
37	PAX5	chr9:43065287-43065510	GM12878	blood:	n/a	n/a
38	PAX5	chr9:43045810-43045969	GM12878	blood:	n/a	n/a
39	PAX5	chr9:43034730-43034959	GM12878	blood:	n/a	n/a
40	PAX5	chr9:43040801-43041085	GM12878	blood:	n/a	n/a
41	PAX5	chr9:43041280-43041744	GM12878	blood:	n/a	n/a
42	PAX5	chr9:43064445-43065302	GM12878	blood:	n/a	n/a
43	PAX5	chr9:43046757-43047008	GM12878	blood:	n/a	n/a
44	PAX5	chr9:43052017-43052196	GM12878	blood:	n/a	n/a
45	PAX5	chr9:43057615-43057983	GM12878	blood:	n/a	n/a
46	PAX5	chr9:43040915-43041070	GM12878	blood:	n/a	n/a
47	PAX5	chr9:43063022-43063492	GM12878	blood:	n/a	n/a
48	PAX5	chr9:43059284-43059522	GM12878	blood:	n/a	n/a
49	PAX5	chr9:43047441-43047946	GM12878	blood:	n/a	n/a
50	PAX5	chr9:43035047-43035427	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXD4L2-7	chr9:43065382-43065609	NONHSAT131343
2	lnc-ANKRD20A3-2	chr9:43064966-43065135	ENSG00000176057.5

No data

Variant related genes	Relation type
ENSG00000232863	TF binding region
CYP4F59P	TF binding region
SNX18P4	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569271883	chr9:43033028-43033029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371303602	chr9:43034440-43034441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs375853478	chr9:43034456-43034457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539433417	chr9:43034622-43034623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144503838	chr9:43034640-43034641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558513960	chr9:43034646-43034647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573548460	chr9:43034661-43034662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201737198	chr9:43034687-43034688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534407816	chr9:43034698-43034699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111725356	chr9:43034784-43034785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111796533	chr9:43034822-43034823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555956998	chr9:43034948-43034949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574451230	chr9:43034949-43034950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541949658	chr9:43034954-43034955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563222010	chr9:43034957-43034958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575224566	chr9:43034966-43034967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545365970	chr9:43034968-43034969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2507516	chr9:43035570-43035571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2444146	chr9:43035639-43035640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112953427	chr9:43048011-43048012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80203406	chr9:43048025-43048026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3132250	chr9:43048050-43048051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555654566	chr9:43048058-43048059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369793363	chr9:43048076-43048077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200940129	chr9:43048096-43048097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573817885	chr9:43048098-43048099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71243292	chr9:43048109-43048110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62535947	chr9:43048161-43048162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12340313	chr9:43048190-43048191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199616309	chr9:43060449-43060450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549059603	chr9:43060585-43060586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567190884	chr9:43060597-43060598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537827301	chr9:43060631-43060632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556206949	chr9:43060633-43060634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs62552303	chr9:43060646-43060647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2474200	chr9:43062308-43062309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs9412466	chr9:43062387-43062388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs199760472	chr9:43063236-43063237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs368424083	chr9:43063384-43063385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs111561185	chr9:43063553-43063554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372005239	chr9:43063764-43063765	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs375374597	chr9:43064640-43064641	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs577974360	chr9:43064826-43064827	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs147507978	chr9:43064853-43064854	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs548618095	chr9:43064858-43064859	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs369960650	chr9:43064938-43064939	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs371315858	chr9:43065152-43065153	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43048000-43048200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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