Variant report

Variant	esv3436941
Chromosome Location	chr5:69208796-69213094
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	BCL11A	chr5:69212362-69212551	GM12878	blood:	n/a	n/a
2	BCL11A	chr5:69211028-69211228	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:69209216-69209435	GM12878	blood:	n/a	n/a
4	CTCF	chr5:69209720-69209870	BE2_C	brain:	n/a	n/a
5	EBF1	chr5:69209017-69209409	GM12878	blood:	n/a	n/a
6	EP300	chr5:69211012-69211339	GM12878	blood:	n/a	n/a
7	FOSL2	chr5:69208910-69209215	HepG2	liver:	n/a	chr5:69209192-69209200 chr5:69209193-69209200
8	FOSL2	chr5:69208927-69209172	HepG2	liver:	n/a	n/a
9	FOSL2	chr5:69211012-69211249	HepG2	liver:	n/a	n/a
10	FOSL2	chr5:69209216-69209530	HepG2	liver:	n/a	n/a
11	FOXA2	chr5:69209004-69209939	A549	lung:	n/a	chr5:69209267-69209279
12	FOXA2	chr5:69208195-69208910	A549	lung:	n/a	n/a
13	GABPA	chr5:69211027-69211325	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr5:69208961-69209221	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr5:69211048-69211167	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr5:69211916-69212095	Hela-S3	cervix:	n/a	n/a
17	GATA2	chr5:69209222-69209462	K562	blood:	n/a	chr5:69209324-69209334
18	GATA2	chr5:69211060-69211337	K562	blood:	n/a	n/a
19	HEY1	chr5:69211021-69211312	K562	blood:	n/a	n/a
20	HEY1	chr5:69209001-69209405	K562	blood:	n/a	n/a
21	HEY1	chr5:69210521-69210772	HepG2	liver:	n/a	n/a
22	IRF4	chr5:69209053-69209364	GM12878	blood:	n/a	n/a
23	JUND	chr5:69209753-69209981	HepG2	liver:	n/a	n/a
24	JUND	chr5:69211874-69212055	HepG2	liver:	n/a	n/a
25	JUND	chr5:69209042-69209460	HepG2	liver:	n/a	chr5:69209192-69209200 chr5:69209193-69209200
26	PAX5	chr5:69208982-69209206	GM12878	blood:	n/a	n/a
27	PAX5	chr5:69212109-69212305	GM12878	blood:	n/a	n/a
28	PAX5	chr5:69211838-69212470	GM12878	blood:	n/a	n/a
29	PAX5	chr5:69211868-69212047	GM12878	blood:	n/a	n/a
30	PAX5	chr5:69211094-69211260	GM12878	blood:	n/a	n/a
31	PAX5	chr5:69210972-69211395	GM12878	blood:	n/a	n/a
32	PAX5	chr5:69210562-69210958	GM12878	blood:	n/a	n/a
33	PAX5	chr5:69211017-69211312	GM12878	blood:	n/a	n/a
34	PAX5	chr5:69211033-69211315	GM12878	blood:	n/a	n/a
35	PAX5	chr5:69209858-69210030	GM12878	blood:	n/a	n/a
36	PAX5	chr5:69209207-69209374	GM12878	blood:	n/a	n/a
37	PBX3	chr5:69211337-69211450	GM12878	blood:	n/a	n/a
38	PBX3	chr5:69208643-69208834	GM12878	blood:	n/a	n/a
39	PBX3	chr5:69211038-69211246	GM12878	blood:	n/a	n/a
40	PBX3	chr5:69209792-69209924	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:69208966-69209215	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:69211763-69212460	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:69210919-69211685	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:69210494-69210747	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:69210262-69210777	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr5:69210559-69210702	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:69208915-69209512	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:69209052-69209538	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr5:69211094-69211257	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:69209724-69210030	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000198237	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566891347	chr5:69209198-69209199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111876451	chr5:69209537-69209538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368996521	chr5:69209562-69209563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142445162	chr5:69209576-69209577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373090490	chr5:69209739-69209740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376806514	chr5:69209796-69209797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200196223	chr5:69209830-69209831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369795330	chr5:69210014-69210015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62374349	chr5:69210362-69210363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs891826	chr5:69210586-69210587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs833569	chr5:69210743-69210744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201136499	chr5:69212288-69212289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62374350	chr5:69212720-69212721	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69202000-69211400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:69208600-69211000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:69208600-69211000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:69208600-69211000	Weak transcription	Thymus	Thymus
5	chr5:69209800-69210000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:69209800-69210000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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