Variant report

Variant	esv3428121
Chromosome Location	chr5:68919346-68925694
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	FOSL2	chr5:68920008-68920332	HepG2	liver:	n/a	n/a
2	FOSL2	chr5:68920800-68921041	HepG2	liver:	n/a	n/a
3	FOXA1	chr5:68919340-68919650	HepG2	liver:	n/a	n/a
4	JUND	chr5:68922781-68922904	HepG2	liver:	n/a	n/a
5	PAX5	chr5:68923202-68923782	GM12878	blood:	n/a	n/a
6	PAX5	chr5:68923426-68923646	GM12878	blood:	n/a	n/a
7	PAX5	chr5:68923155-68923712	GM12878	blood:	n/a	n/a
8	PAX5	chr5:68922937-68923118	GM12878	blood:	n/a	n/a
9	PAX5	chr5:68921377-68921734	GM12878	blood:	n/a	n/a
10	PAX5	chr5:68923273-68923715	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:68919862-68920213	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:68918800-68919454	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:68925607-68925811	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:68919964-68920172	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:68920703-68921154	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:68925492-68925825	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:68920759-68921126	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAF9-6	chr5:68921203-68921727	NONHSAT101933

Variant related genes	Relation type
ENSG00000250138	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4958932	chr5:68921207-68921208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs4958933	chr5:68921263-68921264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs28403237	chr5:68923110-68923111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200552353	chr5:68923146-68923147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201993902	chr5:68923415-68923416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550357718	chr5:68923525-68923526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571907614	chr5:68923543-68923544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79167188	chr5:68923544-68923545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs146042216	chr5:68923550-68923551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564412877	chr5:68923555-68923556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138261475	chr5:68923559-68923560	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554332431	chr5:68923585-68923586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561891300	chr5:68923679-68923680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529376515	chr5:68923886-68923887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547531819	chr5:68923905-68923906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192657354	chr5:68924113-68924114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2666646	chr5:68924120-68924121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558359918	chr5:68924136-68924137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201097051	chr5:68924236-68924237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566066281	chr5:68924511-68924512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533144737	chr5:68924512-68924513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578194870	chr5:68924576-68924577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71215164	chr5:68925193-68925194	Weak transcription	n/a	n/a	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
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68922800-68927600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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