Variant report

Variant	esv3417376
Chromosome Location	chr9:43015156-43042854
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	BATF	chr9:43040860-43041209	GM12878	blood:	n/a	n/a
2	BATF	chr9:43030279-43030781	GM12878	blood:	n/a	n/a
3	BATF	chr9:43024482-43024825	GM12878	blood:	n/a	n/a
4	BATF	chr9:43020294-43020554	GM12878	blood:	n/a	n/a
5	BATF	chr9:43041299-43041619	GM12878	blood:	n/a	n/a
6	BATF	chr9:43040825-43041252	GM12878	blood:	n/a	n/a
7	BATF	chr9:43024480-43024820	GM12878	blood:	n/a	n/a
8	BATF	chr9:43041329-43041687	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:43020297-43020634	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:43034149-43034320	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:43024458-43024717	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43027974-43028206	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43020307-43020576	GM12878	blood:	n/a	n/a
14	CBX3	chr9:43017372-43017956	K562	blood:	n/a	n/a
15	CEBPD	chr9:43017439-43018032	K562	blood:	n/a	n/a
16	CTCF	chr9:43040467-43040526	LNCaP	prostate:	n/a	n/a
17	CTCF	chr9:43030265-43030681	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
18	CTCF	chr9:43030446-43030545	Pancreas_OC	pancreas:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
19	CTCF	chr9:43030233-43030716	K562	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
20	CTCF	chr9:43030398-43030570	GM13977	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
21	CTCF	chr9:43030430-43030503	GM20000	blood:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
22	CTCF	chr9:43030276-43030617	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
23	CTCF	chr9:43030412-43030552	GM13976	blood:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
24	CTCF	chr9:43030373-43030536	LNCaP	prostate:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
25	CTCF	chr9:43030427-43030510	GM10248	blood:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
26	CTCF	chr9:43030415-43030512	Kidney_OC	kidney:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
27	CTCF	chr9:43030443-43030512	Medullo	brain:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
28	CTCF	chr9:43030301-43030638	K562	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
29	CTCF	chr9:43030393-43030580	LNCaP	prostate:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
30	CTCF	chr9:43030351-43030584	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
31	CTCF	chr9:43030256-43030676	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
32	CTCF	chr9:43030396-43030564	GM10266	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
33	CTCF	chr9:43030417-43030552	Spleen_OC	spleen:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
34	CTCF	chr9:43030219-43030751	K562	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
35	EBF1	chr9:43030340-43030683	GM12878	blood:	n/a	n/a
36	EBF1	chr9:43027133-43027602	GM12878	blood:	n/a	n/a
37	EBF1	chr9:43040673-43041034	GM12878	blood:	n/a	n/a
38	EBF1	chr9:43027266-43027556	GM12878	blood:	n/a	n/a
39	EBF1	chr9:43023445-43023636	GM12878	blood:	n/a	n/a
40	EBF1	chr9:43040739-43041103	GM12878	blood:	n/a	n/a
41	EBF1	chr9:43029352-43029656	GM12878	blood:	n/a	n/a
42	EP300	chr9:43020251-43020515	GM12878	blood:	n/a	n/a
43	EP300	chr9:43027702-43027876	GM12878	blood:	n/a	n/a
44	EP300	chr9:43018797-43019277	GM12878	blood:	n/a	n/a
45	EP300	chr9:43026277-43026652	GM12878	blood:	n/a	n/a
46	FOSL2	chr9:43033453-43033684	HepG2	liver:	n/a	n/a
47	FOSL2	chr9:43027886-43028344	HepG2	liver:	n/a	n/a
48	FOSL2	chr9:43030262-43030727	HepG2	liver:	n/a	chr9:43030395-43030404
49	FOSL2	chr9:43015218-43015485	HepG2	liver:	n/a	n/a
50	FOXA1	chr9:43017753-43018211	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-8	chr9:43017660-43021770	ucscGeneNc_uc004acs_2

Variant related genes	Relation type
CYP4F59P	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11265719	chr9:43017886-43017887	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs199582883	chr9:43018082-43018083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs112042397	chr9:43018216-43018217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs111227375	chr9:43019025-43019026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs619990	chr9:43019098-43019099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs184054906	chr9:43019251-43019252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2207468	chr9:43019310-43019311	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs372257551	chr9:43020395-43020396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs9721855	chr9:43020493-43020494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs368046492	chr9:43020548-43020549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs371488850	chr9:43020565-43020566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs562059251	chr9:43020582-43020583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200442645	chr9:43020586-43020587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs75796501	chr9:43020609-43020610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs200595515	chr9:43020626-43020627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs376591575	chr9:43020627-43020628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs76206008	chr9:43020641-43020642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113542142	chr9:43020812-43020813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs568190940	chr9:43020845-43020846	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374674213	chr9:43020921-43020922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1848653	chr9:43021605-43021606	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs569271883	chr9:43033028-43033029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371303602	chr9:43034440-43034441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375853478	chr9:43034456-43034457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539433417	chr9:43034622-43034623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs144503838	chr9:43034640-43034641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs558513960	chr9:43034646-43034647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs573548460	chr9:43034661-43034662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs201737198	chr9:43034687-43034688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534407816	chr9:43034698-43034699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs111725356	chr9:43034784-43034785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111796533	chr9:43034822-43034823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs555956998	chr9:43034948-43034949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574451230	chr9:43034949-43034950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541949658	chr9:43034954-43034955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563222010	chr9:43034957-43034958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575224566	chr9:43034966-43034967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs545365970	chr9:43034968-43034969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2507516	chr9:43035570-43035571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs2444146	chr9:43035639-43035640	Inactive region	TF binding region	1 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: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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