Variant report

Variant	esv3329733
Chromosome Location	chr4:19227004-19229377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184476722	chr4:19227021-19227022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370187916	chr4:19227066-19227067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529410075	chr4:19227067-19227068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547872450	chr4:19227098-19227099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73236430	chr4:19227099-19227100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142777867	chr4:19227103-19227104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570000120	chr4:19227119-19227120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12645957	chr4:19227120-19227121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73236431	chr4:19227273-19227274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548929324	chr4:19227276-19227277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146051512	chr4:19227346-19227347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567475877	chr4:19227403-19227404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566413570	chr4:19227448-19227449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551558126	chr4:19227449-19227450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535187877	chr4:19227469-19227470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76222345	chr4:19227485-19227486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73236491	chr4:19227577-19227578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570866159	chr4:19227579-19227580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73236492	chr4:19227624-19227625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557458058	chr4:19227625-19227626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73800803	chr4:19227641-19227642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187310053	chr4:19227642-19227643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73102837	chr4:19227654-19227655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561873512	chr4:19227671-19227672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573847199	chr4:19227701-19227702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191789802	chr4:19227729-19227730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77423770	chr4:19227759-19227760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533254596	chr4:19227784-19227785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112838915	chr4:19227795-19227796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575605363	chr4:19227802-19227803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544634779	chr4:19227822-19227823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1478047	chr4:19227832-19227833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376856701	chr4:19227844-19227845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376149168	chr4:19227851-19227852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555742676	chr4:19227870-19227871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149926521	chr4:19227871-19227872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57464992	chr4:19227875-19227876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572049583	chr4:19227893-19227894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552970719	chr4:19227896-19227897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184062860	chr4:19227916-19227917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576607414	chr4:19227918-19227919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35945249	chr4:19227939-19227940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35283300	chr4:19227955-19227956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529513243	chr4:19227992-19227993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184473811	chr4:19228032-19228033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533478382	chr4:19228039-19228040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28498324	chr4:19228070-19228071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536875310	chr4:19228082-19228083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567539035	chr4:19228083-19228084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534914284	chr4:19228085-19228086	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19226800-19227200	Enhancers	Osteobl	bone
2	chr4:19227200-19229200	Weak transcription	Osteobl	bone
3	chr4:19229200-19229800	Enhancers	Osteobl	bone

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