Variant report

Variant	nsv820942
Chromosome Location	chr5:69829883-70074570
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	chr5:70058347-70059128	GM12878	blood:	n/a	n/a
2	BATF	chr5:69877438-69877843	GM12878	blood:	n/a	n/a
3	BATF	chr5:69878947-69879374	GM12878	blood:	n/a	n/a
4	BATF	chr5:70019639-70019850	GM12878	blood:	n/a	n/a
5	BATF	chr5:69880455-69880768	GM12878	blood:	n/a	n/a
6	BATF	chr5:69902122-69902364	GM12878	blood:	n/a	chr5:69902199-69902210
7	BATF	chr5:69877453-69877664	GM12878	blood:	n/a	n/a
8	BATF	chr5:69839192-69839395	GM12878	blood:	n/a	n/a
9	BATF	chr5:70021119-70021411	GM12878	blood:	n/a	n/a
10	BATF	chr5:69879076-69879349	GM12878	blood:	n/a	n/a
11	BATF	chr5:70018767-70018986	GM12878	blood:	n/a	n/a
12	BATF	chr5:70016506-70016819	GM12878	blood:	n/a	n/a
13	BATF	chr5:70017925-70018198	GM12878	blood:	n/a	n/a
14	BATF	chr5:70043640-70043922	GM12878	blood:	n/a	n/a
15	BATF	chr5:69832636-69832863	GM12878	blood:	n/a	n/a
16	BATF	chr5:70017249-70017652	GM12878	blood:	n/a	n/a
17	BATF	chr5:70060822-70061246	GM12878	blood:	n/a	n/a
18	BATF	chr5:69912833-69913057	GM12878	blood:	n/a	n/a
19	BATF	chr5:69876379-69876822	GM12878	blood:	n/a	n/a
20	BATF	chr5:69882957-69883328	GM12878	blood:	n/a	n/a
21	BATF	chr5:70049736-70049972	GM12878	blood:	n/a	n/a
22	BATF	chr5:70046680-70046878	GM12878	blood:	n/a	chr5:70046762-70046773
23	BATF	chr5:69854149-69854431	GM12878	blood:	n/a	n/a
24	BATF	chr5:69837169-69837415	GM12878	blood:	n/a	n/a
25	BATF	chr5:70060839-70061183	GM12878	blood:	n/a	n/a
26	BATF	chr5:69835627-69835971	GM12878	blood:	n/a	n/a
27	BATF	chr5:69881066-69881646	GM12878	blood:	n/a	n/a
28	BATF	chr5:70014987-70015190	GM12878	blood:	n/a	n/a
29	BATF	chr5:69854547-69854822	GM12878	blood:	n/a	chr5:69854638-69854647
30	BATF	chr5:70022457-70022912	GM12878	blood:	n/a	n/a
31	BATF	chr5:69874391-69874846	GM12878	blood:	n/a	n/a
32	BATF	chr5:69871949-69872278	GM12878	blood:	n/a	n/a
33	BATF	chr5:70052165-70052370	GM12878	blood:	n/a	n/a
34	BATF	chr5:69896750-69896954	GM12878	blood:	n/a	n/a
35	BATF	chr5:69868492-69868672	GM12878	blood:	n/a	n/a
36	BATF	chr5:69984044-69984256	GM12878	blood:	n/a	n/a
37	BATF	chr5:70017900-70018327	GM12878	blood:	n/a	n/a
38	BATF	chr5:69839605-69840032	GM12878	blood:	n/a	n/a
39	BATF	chr5:70002912-70003149	GM12878	blood:	n/a	n/a
40	BATF	chr5:70056763-70057190	GM12878	blood:	n/a	n/a
41	BATF	chr5:69880425-69880729	GM12878	blood:	n/a	n/a
42	BATF	chr5:69894017-69894214	GM12878	blood:	n/a	n/a
43	BATF	chr5:69845643-69845865	GM12878	blood:	n/a	n/a
44	BATF	chr5:70016535-70016849	GM12878	blood:	n/a	n/a
45	BATF	chr5:69882386-69883123	GM12878	blood:	n/a	n/a
46	BATF	chr5:70046623-70046836	GM12878	blood:	n/a	chr5:70046762-70046773
47	BATF	chr5:69877858-69878274	GM12878	blood:	n/a	n/a
48	BATF	chr5:70014141-70014878	GM12878	blood:	n/a	n/a
49	BATF	chr5:69851233-69851446	GM12878	blood:	n/a	n/a
50	BATF	chr5:70025579-70025765	GM12878	blood:	n/a	chr5:70025663-70025674 chr5:70025664-70025674

Variant related genes	Relation type
ENSG00000253366	TF binding region
ENSG00000196302	TF binding region
ENSG00000197284	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2450377	chr5:70043050-70043051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370567298	chr5:70044806-70044807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555426051	chr5:70044818-70044819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567316773	chr5:70044845-70044846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534604667	chr5:70044919-70044920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111462930	chr5:70045852-70045853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200053236	chr5:70045948-70045949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112746166	chr5:70073751-70073752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112640941	chr5:70073755-70073756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545653020	chr5:70074200-70074201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Breast cancer	21509527	CNVD
Disease	19212409	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69881800-69882200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:69881800-69882200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:69881800-69882200	Active TSS	Right Ventricle	heart
4	chr5:69881800-69882200	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:70073000-70075400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:70074200-70074400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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