Variant report

Variant	nsv251726
Chromosome Location	chr4:15763948-15763949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 48 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11470387	chr4:15763948-15763949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15752600-15767600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:15759200-15765400	Weak transcription	Thymus	Thymus
3	chr4:15759200-15765600	Enhancers	Dnd41	blood
4	chr4:15759200-15766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:15759200-15767800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:15759800-15766200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:15760000-15767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:15760000-15767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:15760200-15767200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:15761000-15767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:15762000-15764200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:15762000-15767800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:15762800-15766200	Weak transcription	Fetal Thymus	thymus
14	chr4:15763000-15769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:15763400-15764000	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:15763400-15766400	Weak transcription	Primary T cells from cord blood	blood
17	chr4:15763600-15767000	Weak transcription	GM12878-XiMat	blood
18	chr4:15763800-15764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:15763800-15766200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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