Variant report

Variant	esv3446655
Chromosome Location	chr9:43081056-43093054
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	chr9:43091869-43092145	GM12878	blood:	n/a	n/a
2	BATF	chr9:43091491-43091786	GM12878	blood:	n/a	n/a
3	BATF	chr9:43087580-43087916	GM12878	blood:	n/a	chr9:43087721-43087732
4	BATF	chr9:43091426-43091832	GM12878	blood:	n/a	n/a
5	BATF	chr9:43081184-43081460	GM12878	blood:	n/a	n/a
6	BATF	chr9:43087590-43087949	GM12878	blood:	n/a	chr9:43087721-43087732
7	BCL11A	chr9:43091499-43091758	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:43088437-43088621	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:43088372-43088619	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:43091473-43091841	GM12878	blood:	n/a	n/a
11	BHLHE40	chr9:43088372-43088612	HepG2	liver:	n/a	n/a
12	BHLHE40	chr9:43090215-43090426	HepG2	liver:	n/a	n/a
13	CBX3	chr9:43080682-43081067	K562	blood:	n/a	n/a
14	CEBPB	chr9:43087603-43087898	K562	blood:	n/a	n/a
15	CEBPD	chr9:43080575-43081175	K562	blood:	n/a	n/a
16	CTCF	chr9:43089807-43089855	Medullo	brain:	n/a	n/a
17	CTCF	chr9:43087742-43087766	LNCaP	prostate:	n/a	n/a
18	CTCF	chr9:43087656-43088022	K562	blood:	n/a	n/a
19	CTCF	chr9:43087626-43087938	K562	blood:	n/a	n/a
20	EP300	chr9:43083217-43083517	GM12878	blood:	n/a	n/a
21	EP300	chr9:43091054-43091223	GM12878	blood:	n/a	n/a
22	EP300	chr9:43088477-43088751	GM12878	blood:	n/a	chr9:43088494-43088508
23	EP300	chr9:43091556-43091755	GM12878	blood:	n/a	n/a
24	EP300	chr9:43091023-43091306	GM12878	blood:	n/a	n/a
25	EP300	chr9:43091467-43092076	GM12878	blood:	n/a	n/a
26	EP300	chr9:43090143-43090307	GM12878	blood:	n/a	n/a
27	EP300	chr9:43083647-43083929	GM12878	blood:	n/a	n/a
28	FOSL2	chr9:43090020-43090374	HepG2	liver:	n/a	n/a
29	FOSL2	chr9:43083171-43083507	HepG2	liver:	n/a	n/a
30	FOSL2	chr9:43090011-43090421	HepG2	liver:	n/a	n/a
31	FOSL2	chr9:43087603-43087963	HepG2	liver:	n/a	chr9:43087718-43087730 chr9:43087725-43087732 chr9:43087725-43087733 chr9:43087724-43087733
32	FOSL2	chr9:43080762-43081137	HepG2	liver:	n/a	n/a
33	FOXA1	chr9:43089945-43090451	HepG2	liver:	n/a	n/a
34	FOXA1	chr9:43080715-43081158	HepG2	liver:	n/a	n/a
35	FOXA1	chr9:43091713-43092210	HepG2	liver:	n/a	n/a
36	FOXA1	chr9:43083509-43083996	HepG2	liver:	n/a	chr9:43083887-43083899
37	FOXA1	chr9:43087479-43088003	HepG2	liver:	n/a	n/a
38	FOXA2	chr9:43087645-43088035	A549	lung:	n/a	n/a
39	FOXA2	chr9:43087544-43087978	A549	lung:	n/a	n/a
40	GATA2	chr9:43085359-43085623	K562	blood:	n/a	chr9:43085412-43085419 chr9:43085408-43085424 chr9:43085412-43085419 chr9:43085412-43085419 chr9:43085405-43085426
41	GATA2	chr9:43083568-43083920	K562	blood:	n/a	chr9:43083714-43083725
42	GATA2	chr9:43090007-43090374	K562	blood:	n/a	n/a
43	GATA2	chr9:43081440-43081700	K562	blood:	n/a	n/a
44	GATA2	chr9:43080515-43081242	K562	blood:	n/a	n/a
45	GATA2	chr9:43082422-43082756	K562	blood:	n/a	n/a
46	GATA2	chr9:43086128-43086415	K562	blood:	n/a	n/a
47	GATA2	chr9:43091496-43092203	K562	blood:	n/a	n/a
48	HEY1	chr9:43080837-43081202	K562	blood:	n/a	n/a
49	HEY1	chr9:43080813-43081205	HepG2	liver:	n/a	n/a
50	HEY1	chr9:43091864-43092143	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-2	chr9:43089717-43089866	ENSG00000176057.5
2	lnc-ANKRD20A3-2	chr9:43091403-43091857	ENSG00000176057.5
3	lnc-ANKRD20A3-2	chr9:43082756-43082885	ENSG00000176057.5
4	lnc-ANKRD20A3-2	chr9:43091403-43091472	ENSG00000176057.5
5	lnc-ANKRD20A3-2	chr9:43089717-43089866	ENSG00000176057.5

Variant related genes	Relation type
ANKRD20A3	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62552310	chr9:43091509-43091510	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs536427463	chr9:43092088-43092089	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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