Variant report

Variant	esv3523097
Chromosome Location	chr4:59944560-59950608
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	FOXA1	chr4:59944890-59945114	HepG2	liver:	n/a	n/a
2	FOXA2	chr4:59944648-59945407	A549	lung:	n/a	n/a
3	FOXA2	chr4:59944865-59945167	A549	lung:	n/a	n/a
4	POLR2A	chr4:59944915-59945041	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:59945206-59945313	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:59944851-59945052	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr4:59944833-59945057	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000250375	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373637587	chr4:59944665-59944666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541264050	chr4:59944668-59944669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376623207	chr4:59944713-59944714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs28415382	chr4:59944734-59944735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28405296	chr4:59944745-59944746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs28483426	chr4:59944769-59944770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs569257487	chr4:59944794-59944795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563711994	chr4:59944799-59944800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs367774957	chr4:59944818-59944819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530766165	chr4:59944830-59944831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545782559	chr4:59944832-59944833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564473266	chr4:59944837-59944838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7435880	chr4:59944851-59944852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575805985	chr4:59944857-59944858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs371485198	chr4:59944883-59944884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113160774	chr4:59944895-59944896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs546812646	chr4:59944901-59944902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568524183	chr4:59944915-59944916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529802842	chr4:59944933-59944934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs7438621	chr4:59944940-59944941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547928686	chr4:59944941-59944942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs543320220	chr4:59944946-59944947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369584738	chr4:59945045-59945046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs373705876	chr4:59945046-59945047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201104062	chr4:59945054-59945055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371067488	chr4:59945104-59945105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372433000	chr4:59945184-59945185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs375699290	chr4:59945214-59945215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs528203603	chr4:59945300-59945301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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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