Variant report

Variant	esv1813661
Chromosome Location	chr5:70588850-70659556
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	chr5:70616798-70617022	GM12878	blood:	n/a	n/a
2	BATF	chr5:70590289-70590572	GM12878	blood:	n/a	chr5:70590466-70590476
3	BATF	chr5:70601668-70601918	GM12878	blood:	n/a	n/a
4	BATF	chr5:70606094-70606336	GM12878	blood:	n/a	chr5:70606171-70606182
5	BATF	chr5:70590285-70590560	GM12878	blood:	n/a	chr5:70590466-70590476
6	BATF	chr5:70602705-70602934	GM12878	blood:	n/a	n/a
7	BATF	chr5:70598063-70598280	GM12878	blood:	n/a	n/a
8	BATF	chr5:70600720-70600924	GM12878	blood:	n/a	n/a
9	BATF	chr5:70624925-70625151	GM12878	blood:	n/a	n/a
10	BATF	chr5:70609718-70609921	GM12878	blood:	n/a	n/a
11	BATF	chr5:70597986-70598270	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:70619617-70619781	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:70597532-70597699	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:70606135-70606342	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:70598038-70598363	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:70620152-70620315	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:70598066-70598232	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:70590295-70590567	GM12878	blood:	n/a	chr5:70590468-70590477 chr5:70590469-70590478
19	BCL11A	chr5:70588360-70588960	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:70605837-70606069	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:70622230-70622402	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:70595388-70595567	GM12878	blood:	n/a	n/a
23	BCL11A	chr5:70602675-70602971	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:70613462-70613645	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:70606153-70606352	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:70614344-70614558	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:70640705-70640981	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:70590267-70590547	GM12878	blood:	n/a	chr5:70590468-70590477 chr5:70590469-70590478
29	BCL11A	chr5:70596648-70596908	GM12878	blood:	n/a	n/a
30	BHLHE40	chr5:70593853-70594071	HepG2	liver:	n/a	n/a
31	BHLHE40	chr5:70632354-70632586	HepG2	liver:	n/a	n/a
32	BHLHE40	chr5:70627745-70627967	HepG2	liver:	n/a	n/a
33	BHLHE40	chr5:70616979-70617215	HepG2	liver:	n/a	n/a
34	CEBPB	chr5:70605070-70605299	K562	blood:	n/a	chr5:70605176-70605189 chr5:70605176-70605187 chr5:70605176-70605189 chr5:70605176-70605189 chr5:70605176-70605187
35	CEBPB	chr5:70656741-70656969	K562	blood:	n/a	chr5:70656854-70656867 chr5:70656926-70656937 chr5:70656854-70656865 chr5:70656854-70656867
36	CTCF	chr5:70590781-70590801	GM13976	blood:	n/a	n/a
37	CTCF	chr5:70645085-70645303	A549	lung:	n/a	n/a
38	CTCF	chr5:70659007-70659110	Medullo	brain:	n/a	n/a
39	CTCF	chr5:70645088-70645282	Medullo	brain:	n/a	n/a
40	CTCF	chr5:70645135-70645243	K562	blood:	n/a	n/a
41	CTCF	chr5:70645125-70645232	GM10266	blood:	n/a	n/a
42	CTCF	chr5:70642235-70642329	GM10266	blood:	n/a	n/a
43	CTCF	chr5:70645096-70645261	A549	lung:	n/a	n/a
44	CTCF	chr5:70658941-70658981	Medullo	brain:	n/a	n/a
45	CTCF	chr5:70612266-70612329	GM10266	blood:	n/a	n/a
46	EBF1	chr5:70613420-70613699	GM12878	blood:	n/a	n/a
47	EBF1	chr5:70598064-70598359	GM12878	blood:	n/a	n/a
48	EBF1	chr5:70640663-70640852	GM12878	blood:	n/a	n/a
49	EBF1	chr5:70616854-70617106	GM12878	blood:	n/a	n/a
50	EBF1	chr5:70595354-70595596	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-3	chr5:70647682-70649750	NONHSAT102012
2	lnc-GTF2H2-3	chr5:70649314-70649750	ENSG00000250387
3	lnc-GTF2H2-3	chr5:70647682-70649750	ENSG00000250387

Variant related genes	Relation type
GUSBP9	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535289660	chr5:70590274-70590275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs373680353	chr5:70647702-70647703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs10055600	chr5:70647901-70647902	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs541983619	chr5:70648521-70648522	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs546829933	chr5:70648565-70648566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs554313404	chr5:70648570-70648571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs10064514	chr5:70648858-70648859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs572692104	chr5:70648874-70648875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs377634262	chr5:70649077-70649078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs58855038	chr5:70649403-70649404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs201949888	chr5:70649404-70649405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs7702814	chr5:70649421-70649422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	22522925	CNVD
Medullary thyroid carcinoma	18765511	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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