Variant report

Variant	esv3337676
Chromosome Location	chr4:19630260-19631884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545089149	chr4:19630837-19630838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76218305	chr4:19630840-19630841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369302196	chr4:19630902-19630903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138236039	chr4:19630906-19630907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373363665	chr4:19631013-19631014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116298543	chr4:19631021-19631022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564320873	chr4:19631082-19631083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561538113	chr4:19631159-19631160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142918144	chr4:19631205-19631206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540883173	chr4:19631213-19631214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568792677	chr4:19631265-19631266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs207464361	chr4:19631267-19631268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559400705	chr4:19631272-19631273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532909824	chr4:19631323-19631324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551065461	chr4:19631350-19631351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62296870	chr4:19631392-19631393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75786195	chr4:19631417-19631418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549145854	chr4:19631462-19631463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187563181	chr4:19631478-19631479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375803830	chr4:19631485-19631486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114451956	chr4:19631487-19631488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193299001	chr4:19631495-19631496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571868822	chr4:19631567-19631568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75396204	chr4:19631570-19631571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557375163	chr4:19631586-19631587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184621544	chr4:19631590-19631591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557063586	chr4:19631593-19631594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551154020	chr4:19631674-19631675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28648664	chr4:19631705-19631706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554648274	chr4:19631707-19631708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541360758	chr4:19631712-19631713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28548032	chr4:19631717-19631718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530246099	chr4:19631720-19631721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559524547	chr4:19631740-19631741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187604488	chr4:19631761-19631762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200369538	chr4:19631780-19631781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545324519	chr4:19631785-19631786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7666136	chr4:19631786-19631787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530522561	chr4:19631788-19631789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549058199	chr4:19631802-19631803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146124592	chr4:19631803-19631804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528669235	chr4:19631806-19631807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16868654	chr4:19631869-19631870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr4:19630800-19631600	Enhancers	Fetal Lung	lung
2	chr4:19630800-19632000	Enhancers	Fetal Kidney	kidney
3	chr4:19631200-19631800	Enhancers	Colon Smooth Muscle	Colon
4	chr4:19631400-19631800	Enhancers	Rectal Smooth Muscle	rectum

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