Variant report

Variant	esv3423480
Chromosome Location	chr9:43061056-43067654
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	CTCF	chr9:43065071-43065092	Lung_OC	lung:	n/a	n/a
2	FOSL2	chr9:43064113-43064400	HepG2	liver:	n/a	n/a
3	JUND	chr9:43063252-43063447	HepG2	liver:	n/a	n/a
4	PAX5	chr9:43063022-43063492	GM12878	blood:	n/a	n/a
5	PAX5	chr9:43064445-43065302	GM12878	blood:	n/a	n/a
6	PAX5	chr9:43065287-43065510	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:43065011-43065034	A549	lung:	n/a	n/a
8	POLR2A	chr9:43064916-43064940	A549	lung:	n/a	n/a
9	POU2F2	chr9:43064257-43065275	GM12878	blood:	n/a	n/a
10	POU2F2	chr9:43066042-43066749	GM12878	blood:	n/a	n/a
11	POU2F2	chr9:43063420-43063854	GM12878	blood:	n/a	n/a
12	SPI1	chr9:43066160-43066514	GM12878	blood:	n/a	n/a
13	TCF12	chr9:43064488-43064655	GM12878	blood:	n/a	chr9:43064547-43064557 chr9:43064601-43064611 chr9:43064605-43064612 chr9:43064593-43064603
14	TCF3	chr9:43063454-43063727	GM12878	blood:	n/a	n/a
15	ZBTB33	chr9:43064822-43065292	GM12878	blood:	n/a	n/a
16	ZBTB33	chr9:43062230-43062493	K562	blood:	n/a	n/a
17	ZBTB33	chr9:43063397-43063793	GM12878	blood:	n/a	n/a
18	ZBTB33	chr9:43064681-43065180	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-2	chr9:43066677-43066795	ENSG00000176057.5
2	lnc-ANKRD20A3-2	chr9:43064966-43065135	ENSG00000176057.5
3	lnc-ANKRD20A3-2	chr9:43067596-43067649	ENSG00000176057.5
4	lnc-FOXD4L2-7	chr9:43065382-43065609	NONHSAT131343

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

Extended variants
information (count: 20 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2474200	chr9:43062308-43062309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs9412466	chr9:43062387-43062388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs199760472	chr9:43063236-43063237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368424083	chr9:43063384-43063385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111561185	chr9:43063553-43063554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372005239	chr9:43063764-43063765	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs375374597	chr9:43064640-43064641	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs577974360	chr9:43064826-43064827	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs147507978	chr9:43064853-43064854	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs548618095	chr9:43064858-43064859	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs369960650	chr9:43064938-43064939	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs371315858	chr9:43065152-43065153	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs369881600	chr9:43066548-43066549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374176816	chr9:43066620-43066621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553964734	chr9:43066637-43066638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572268481	chr9:43066643-43066644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542797838	chr9:43066679-43066680	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs142964543	chr9:43066687-43066688	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs111356121	chr9:43066693-43066694	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs576384368	chr9:43066756-43066757	Inactive region	lncRNA	n/a	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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