Variant report

Variant	nsv973621
Chromosome Location	chr9:43317778-43337229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:43335382-43335606	K562	blood:	n/a	n/a
2	CTCF	chr9:43321001-43321114	GM12878	blood:	n/a	n/a
3	CTCF	chr9:43325974-43326076	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr9:43335462-43335495	A549	lung:	n/a	n/a
5	CTCF	chr9:43320815-43321216	A549	lung:	n/a	n/a
6	CTCF	chr9:43321132-43321147	GM13976	blood:	n/a	n/a
7	CTCF	chr9:43323336-43323368	Lung_OC	lung:	n/a	n/a
8	CTCF	chr9:43335460-43335543	HepG2	liver:	n/a	n/a
9	CTCF	chr9:43320771-43321249	A549	lung:	n/a	n/a
10	CTCF	chr9:43321067-43321088	GM19239	blood:	n/a	n/a
11	CTCF	chr9:43330718-43330770	GM10248	blood:	n/a	n/a
12	CTCF	chr9:43321016-43321108	GM10266	blood:	n/a	n/a
13	CTCF	chr9:43319743-43319832	GM10266	blood:	n/a	n/a
14	CTCF	chr9:43321036-43321129	Medullo	brain:	n/a	n/a
15	CTCF	chr9:43335241-43335681	A549	lung:	n/a	n/a
16	CTCF	chr9:43320972-43321053	GM10248	blood:	n/a	n/a
17	CTCF	chr9:43335287-43335666	A549	lung:	n/a	n/a
18	CTCF	chr9:43335399-43335642	A549	lung:	n/a	n/a
19	CTCF	chr9:43321004-43321125	MCF-7	breast:	n/a	n/a
20	CTCF	chr9:43321020-43321053	GM13977	blood:	n/a	n/a
21	CTCF	chr9:43320979-43321131	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:43321075-43321079	LNCaP	prostate:	n/a	n/a
23	NR3C1	chr9:43335359-43335779	A549	lung:	n/a	n/a
24	NR3C1	chr9:43335356-43335810	A549	lung:	n/a	n/a
25	PBX3	chr9:43336314-43336485	GM12878	blood:	n/a	n/a
26	POLR2A	chr9:43332475-43332534	Hela-S3	cervix:	n/a	n/a
27	POU2F2	chr9:43333052-43333338	GM12878	blood:	n/a	n/a
28	REST	chr9:43320763-43321075	H1-hESC	embryonic stem cell:	n/a	chr9:43320916-43320925 chr9:43320911-43320931 chr9:43320911-43320931
29	SPI1	chr9:43335414-43335603	K562	blood:	n/a	n/a
30	SPI1	chr9:43335391-43335600	GM12878	blood:	n/a	n/a
31	ZBTB33	chr9:43329750-43330005	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-11	chr9:43319264-43319576	NONHSAT131357
2	lnc-ANKRD20A3-11	chr9:43318619-43318952	NONHSAT131357

No data

Variant related genes	Relation type
ENSG00000224828	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587693476	chr9:43320794-43320795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs587755059	chr9:43321091-43321092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs587649206	chr9:43321094-43321095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35220583	chr9:43321123-43321124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs587648854	chr9:43321125-43321126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369903164	chr9:43321126-43321127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139335175	chr9:43321140-43321141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs55977173	chr9:43321166-43321167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs147502530	chr9:43321180-43321181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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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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