Variant report

Variant	nsv980820
Chromosome Location	chr5:70552104-70558385
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	chr5:70555163-70555361	GM12878	blood:	n/a	n/a
2	BATF	chr5:70555205-70555418	GM12878	blood:	n/a	n/a
3	BATF	chr5:70557168-70557369	GM12878	blood:	n/a	n/a
4	BATF	chr5:70556089-70556296	GM12878	blood:	n/a	n/a
5	BATF	chr5:70552069-70552305	GM12878	blood:	n/a	n/a
6	BATF	chr5:70557634-70557835	GM12878	blood:	n/a	n/a
7	BATF	chr5:70552028-70552325	GM12878	blood:	n/a	n/a
8	BATF	chr5:70558118-70558400	GM12878	blood:	n/a	n/a
9	BATF	chr5:70557586-70557801	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:70552042-70552351	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:70556077-70556302	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:70552928-70553336	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:70552375-70552716	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:70558131-70558399	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:70551954-70552327	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:70557492-70557757	GM12878	blood:	n/a	n/a
17	EBF1	chr5:70554595-70554821	GM12878	blood:	n/a	n/a
18	EBF1	chr5:70557465-70557828	GM12878	blood:	n/a	n/a
19	EBF1	chr5:70551813-70552751	GM12878	blood:	n/a	chr5:70552190-70552199
20	EBF1	chr5:70551975-70552416	GM12878	blood:	n/a	chr5:70552190-70552199
21	EBF1	chr5:70557555-70557790	GM12878	blood:	n/a	n/a
22	EBF1	chr5:70556640-70556905	GM12878	blood:	n/a	n/a
23	EBF1	chr5:70558139-70558346	GM12878	blood:	n/a	n/a
24	EBF1	chr5:70557217-70557404	GM12878	blood:	n/a	n/a
25	EBF1	chr5:70554025-70554316	GM12878	blood:	n/a	n/a
26	EP300	chr5:70554530-70554799	GM12878	blood:	n/a	chr5:70554591-70554598
27	EP300	chr5:70551999-70552675	GM12878	blood:	n/a	n/a
28	EP300	chr5:70557068-70557346	GM12878	blood:	n/a	n/a
29	EP300	chr5:70558098-70558382	GM12878	blood:	n/a	n/a
30	EP300	chr5:70557439-70557870	GM12878	blood:	n/a	chr5:70557853-70557863
31	EP300	chr5:70554056-70554488	GM12878	blood:	n/a	n/a
32	EP300	chr5:70555197-70555364	GM12878	blood:	n/a	n/a
33	EP300	chr5:70554972-70555139	GM12878	blood:	n/a	n/a
34	EP300	chr5:70554885-70555235	GM12878	blood:	n/a	n/a
35	EP300	chr5:70552110-70552265	GM12878	blood:	n/a	n/a
36	EP300	chr5:70557533-70557712	GM12878	blood:	n/a	n/a
37	FOSL2	chr5:70554159-70554448	HepG2	liver:	n/a	n/a
38	FOSL2	chr5:70557385-70557796	HepG2	liver:	n/a	n/a
39	FOSL2	chr5:70557028-70557707	HepG2	liver:	n/a	n/a
40	FOXA1	chr5:70558056-70558386	HepG2	liver:	n/a	n/a
41	FOXA1	chr5:70555921-70556298	HepG2	liver:	n/a	n/a
42	FOXA1	chr5:70552491-70552892	HepG2	liver:	n/a	n/a
43	GABPA	chr5:70557500-70557831	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr5:70554265-70554468	Hela-S3	cervix:	n/a	n/a
45	GATA2	chr5:70552269-70552570	K562	blood:	n/a	n/a
46	GATA2	chr5:70552986-70553401	K562	blood:	n/a	n/a
47	GATA2	chr5:70557415-70557709	K562	blood:	n/a	n/a
48	GATA2	chr5:70554527-70554873	K562	blood:	n/a	n/a
49	GATA2	chr5:70556051-70556339	K562	blood:	n/a	chr5:70556197-70556204 chr5:70556194-70556204 chr5:70556196-70556206
50	GATA2	chr5:70556550-70557196	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235558	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 105 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79293096	chr5:70556976-70556977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533022906	chr5:70557271-70557272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551082136	chr5:70557923-70557924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Spinal muscular atrophy	21762474	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
Breast cancer	21785460	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Disease	19212409	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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