Variant report

Variant	esv3413052
Chromosome Location	chr5:69079046-69191944
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	chr5:69125228-69125432	GM12878	blood:	n/a	n/a
2	BATF	chr5:69139874-69140159	GM12878	blood:	n/a	n/a
3	BATF	chr5:69100991-69101217	GM12878	blood:	n/a	n/a
4	BATF	chr5:69123217-69123446	GM12878	blood:	n/a	n/a
5	BATF	chr5:69184957-69185301	GM12878	blood:	n/a	n/a
6	BATF	chr5:69183520-69183756	GM12878	blood:	n/a	n/a
7	BATF	chr5:69176283-69176488	GM12878	blood:	n/a	n/a
8	BATF	chr5:69140484-69141085	GM12878	blood:	n/a	n/a
9	BATF	chr5:69144491-69144702	GM12878	blood:	n/a	n/a
10	BATF	chr5:69127793-69128030	GM12878	blood:	n/a	n/a
11	BATF	chr5:69135541-69135831	GM12878	blood:	n/a	chr5:69135678-69135689 chr5:69135679-69135689
12	BATF	chr5:69173823-69174059	GM12878	blood:	n/a	n/a
13	BATF	chr5:69141383-69141696	GM12878	blood:	n/a	n/a
14	BATF	chr5:69147263-69147764	GM12878	blood:	n/a	n/a
15	BATF	chr5:69143586-69143838	GM12878	blood:	n/a	n/a
16	BATF	chr5:69167332-69167607	GM12878	blood:	n/a	chr5:69167542-69167551
17	BATF	chr5:69144312-69144717	GM12878	blood:	n/a	n/a
18	BATF	chr5:69170710-69170923	GM12878	blood:	n/a	chr5:69170849-69170860
19	BATF	chr5:69182465-69183246	GM12878	blood:	n/a	n/a
20	BATF	chr5:69189691-69189906	GM12878	blood:	n/a	n/a
21	BATF	chr5:69153214-69153488	GM12878	blood:	n/a	n/a
22	BATF	chr5:69143881-69144297	GM12878	blood:	n/a	n/a
23	BATF	chr5:69176252-69176450	GM12878	blood:	n/a	n/a
24	BATF	chr5:69139028-69139765	GM12878	blood:	n/a	n/a
25	BATF	chr5:69139249-69139763	GM12878	blood:	n/a	n/a
26	BATF	chr5:69146883-69147915	GM12878	blood:	n/a	n/a
27	BATF	chr5:69167339-69167620	GM12878	blood:	n/a	chr5:69167542-69167551
28	BATF	chr5:69181518-69181721	GM12878	blood:	n/a	n/a
29	BATF	chr5:69153486-69154002	GM12878	blood:	n/a	n/a
30	BATF	chr5:69143592-69143854	GM12878	blood:	n/a	n/a
31	BATF	chr5:69149879-69150161	GM12878	blood:	n/a	n/a
32	BATF	chr5:69119813-69120055	GM12878	blood:	n/a	n/a
33	BATF	chr5:69168288-69168489	GM12878	blood:	n/a	n/a
34	BATF	chr5:69145392-69145662	GM12878	blood:	n/a	n/a
35	BATF	chr5:69168322-69168537	GM12878	blood:	n/a	n/a
36	BATF	chr5:69151861-69152084	GM12878	blood:	n/a	n/a
37	BATF	chr5:69170767-69170965	GM12878	blood:	n/a	chr5:69170849-69170860
38	BATF	chr5:69184940-69185364	GM12878	blood:	n/a	n/a
39	BATF	chr5:69116231-69116416	GM12878	blood:	n/a	n/a
40	BATF	chr5:69142802-69143075	GM12878	blood:	n/a	n/a
41	BATF	chr5:69180881-69181308	GM12878	blood:	n/a	n/a
42	BATF	chr5:69124233-69124483	GM12878	blood:	n/a	chr5:69124241-69124250
43	BATF	chr5:69135560-69135835	GM12878	blood:	n/a	chr5:69135678-69135689 chr5:69135679-69135689
44	BATF	chr5:69173825-69174100	GM12878	blood:	n/a	n/a
45	BATF	chr5:69140470-69141119	GM12878	blood:	n/a	n/a
46	BATF	chr5:69142777-69143204	GM12878	blood:	n/a	n/a
47	BATF	chr5:69142126-69142529	GM12878	blood:	n/a	n/a
48	BATF	chr5:69182474-69183251	GM12878	blood:	n/a	n/a
49	BATF	chr5:69138821-69139194	GM12878	blood:	n/a	n/a
50	BATF	chr5:69139860-69140443	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000198237	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 114 )

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	rs62374340	chr5:69167037-69167038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs191438063	chr5:69167614-69167615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371312058	chr5:69168686-69168687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551176410	chr5:69168727-69168728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374567045	chr5:69168728-69168729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375022454	chr5:69168889-69168890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs569775838	chr5:69168921-69168922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377368592	chr5:69168922-69168923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs369127419	chr5:69168964-69168965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	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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