Variant report

Variant	esv3502570
Chromosome Location	chr4:18613441-18614289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372209234	chr4:18613443-18613444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550470788	chr4:18613448-18613449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139787249	chr4:18613451-18613452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187649047	chr4:18613456-18613457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557428987	chr4:18613464-18613465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201175996	chr4:18613474-18613475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375553503	chr4:18613486-18613487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369460262	chr4:18613522-18613523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373808841	chr4:18613650-18613651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373226816	chr4:18613667-18613668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374874726	chr4:18613698-18613699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183262331	chr4:18613936-18613937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376202804	chr4:18613962-18613963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111216424	chr4:18613998-18613999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368991672	chr4:18614031-18614032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192618328	chr4:18614060-18614061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573606547	chr4:18614069-18614070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201576587	chr4:18614106-18614107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542525435	chr4:18614111-18614112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562782538	chr4:18614113-18614114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183891772	chr4:18614121-18614122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188898183	chr4:18614140-18614141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377755762	chr4:18614162-18614163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545267859	chr4:18614179-18614180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370876047	chr4:18614188-18614189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555153627	chr4:18614192-18614193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539598963	chr4:18614194-18614195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201087883	chr4:18614247-18614248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375749383	chr4:18614255-18614256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537535707	chr4:18614272-18614273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567604525	chr4:18614284-18614285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18611000-18619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:18613200-18614400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:18613200-18614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:18613400-18614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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