Variant report

Variant	esv3395742
Chromosome Location	chr4:31078581-31079101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146191059	chr4:31078606-31078607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185517898	chr4:31078629-31078630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75635754	chr4:31078670-31078671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574160031	chr4:31078679-31078680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535299121	chr4:31078703-31078704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556715282	chr4:31078705-31078706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142419479	chr4:31078710-31078711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145972070	chr4:31078716-31078717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564363037	chr4:31078748-31078749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573157367	chr4:31078750-31078751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540590549	chr4:31078752-31078753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574221852	chr4:31078771-31078772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190541808	chr4:31078792-31078793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545551751	chr4:31078799-31078800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544869048	chr4:31078803-31078804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563063831	chr4:31078811-31078812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61276976	chr4:31078812-31078813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551791582	chr4:31078863-31078864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567127010	chr4:31078889-31078890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562894229	chr4:31078893-31078894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528089420	chr4:31078918-31078919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546172351	chr4:31078950-31078951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567842317	chr4:31078965-31078966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180870435	chr4:31079013-31079014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58949344	chr4:31079032-31079033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200521002	chr4:31079040-31079041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36096768	chr4:31079046-31079047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556776192	chr4:31079068-31079069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568964537	chr4:31079069-31079070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31066400-31088600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:31070600-31088400	Weak transcription	Fetal Stomach	stomach
3	chr4:31075600-31081400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:31076000-31078600	Enhancers	Fetal Heart	heart
5	chr4:31077800-31088600	Weak transcription	Aorta	Aorta
6	chr4:31078600-31085200	Weak transcription	Fetal Heart	heart

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