Variant report

Variant	esv3333283
Chromosome Location	chr4:69866513-69868461
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	chr4:69868219-69869053	HepG2	liver:	n/a	n/a
2	FOXA1	chr4:69868246-69868899	HepG2	liver:	n/a	n/a
3	MBD4	chr4:69866511-69867149	HepG2	liver:	n/a	n/a
4	MYC	chr4:69866669-69866747	K562	blood:	n/a	n/a
5	POLR2A	chr4:69866577-69866849	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:69866498-69867187	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:69867314-69867535	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:69867651-69867880	HepG2	liver:	n/a	n/a
9	POLR2A	chr4:69867808-69867887	HepG2	liver:	n/a	n/a
10	RFX5	chr4:69868133-69868162	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250277	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146247966	chr4:69866524-69866525	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530423456	chr4:69866546-69866547	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113081208	chr4:69866551-69866552	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548296898	chr4:69866555-69866556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73826039	chr4:69866562-69866563	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112479985	chr4:69866563-69866564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147387442	chr4:69866579-69866580	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550643044	chr4:69866580-69866581	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs141732723	chr4:69866618-69866619	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539243088	chr4:69866662-69866663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546529476	chr4:69866695-69866696	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566663593	chr4:69866739-69866740	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs17147075	chr4:69866745-69866746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs535693032	chr4:69866747-69866748	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375839842	chr4:69866753-69866754	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555090388	chr4:69866798-69866799	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189923652	chr4:69866822-69866823	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537968211	chr4:69866937-69866938	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs376790962	chr4:69866958-69866959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557883752	chr4:69866960-69866961	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577555028	chr4:69866972-69866973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150651366	chr4:69866980-69866981	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs552377052	chr4:69866998-69866999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs368750164	chr4:69866999-69867000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs182091827	chr4:69867030-69867031	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs114874718	chr4:69867052-69867053	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs13104346	chr4:69867066-69867067	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs13139536	chr4:69867067-69867068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542472167	chr4:69867076-69867077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561972670	chr4:69867079-69867080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs13104354	chr4:69867083-69867084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs185946818	chr4:69867121-69867122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs13149628	chr4:69867132-69867133	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs13149630	chr4:69867135-69867136	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs190748723	chr4:69867138-69867139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs139733193	chr4:69867168-69867169	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs13104593	chr4:69867178-69867179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs546390512	chr4:69867209-69867210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112521750	chr4:69867229-69867230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367864712	chr4:69867248-69867249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199926715	chr4:69867260-69867261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201053362	chr4:69867262-69867263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7670309	chr4:69867264-69867265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10033842	chr4:69867266-69867267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566630137	chr4:69867297-69867298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61469531	chr4:69867299-69867300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372253479	chr4:69867300-69867301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57089454	chr4:69867301-69867302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372283458	chr4:69867331-69867332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs60135097	chr4:69867346-69867347	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69866000-69868000	Weak transcription	Liver	Liver
2	chr4:69868000-69868400	Strong transcription	Liver	Liver
3	chr4:69868000-69868800	Enhancers	HepG2	liver
4	chr4:69868400-69869200	Weak transcription	Liver	Liver

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