Variant report

Variant	esv3384596
Chromosome Location	chr4:18401427-18401992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:18401438..18404216-chr4:18406279..18407879,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 54 )

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	rs149252711	chr4:18401429-18401430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144434037	chr4:18401431-18401432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554463173	chr4:18401463-18401464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139060559	chr4:18401475-18401476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536881311	chr4:18401558-18401559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190289332	chr4:18401561-18401562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374430468	chr4:18401570-18401571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567224200	chr4:18401594-18401595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534570469	chr4:18401596-18401597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73800647	chr4:18401612-18401613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531300196	chr4:18401625-18401626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1553581	chr4:18401661-18401662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577927840	chr4:18401693-18401694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6825678	chr4:18401723-18401724	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557206715	chr4:18401730-18401731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193186071	chr4:18401775-18401776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567975479	chr4:18401777-18401778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543290026	chr4:18401843-18401844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73094306	chr4:18401857-18401858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573588317	chr4:18401871-18401872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112532278	chr4:18401901-18401902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540537354	chr4:18401919-18401920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564758155	chr4:18401971-18401972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18391600-18404800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:18393400-18403000	Weak transcription	Small Intestine	intestine
3	chr4:18396800-18403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:18399000-18401800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:18399400-18401800	Enhancers	Brain Germinal Matrix	brain
6	chr4:18400600-18404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:18400800-18401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:18401400-18408800	Enhancers	Fetal Intestine Large	intestine
9	chr4:18401400-18409200	Enhancers	Fetal Intestine Small	intestine

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