Variant report

Variant	esv3352840
Chromosome Location	chr3:163539158-163543256
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	chr3:163541049..163542770-chr3:163547839..163549740,2	K562	blood:
2	chr3:163539597..163540281-chr6:10405070..10405779,2	Hela-S3	cervix:

Extended variants
information (count: 43 )
Associated
traits (count: 62 )

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	rs11708234	chr3:163539410-163539411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560819250	chr3:163539420-163539421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529852566	chr3:163539465-163539466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548487458	chr3:163539466-163539467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76646616	chr3:163539483-163539484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532101215	chr3:163539521-163539522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552211058	chr3:163539559-163539560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565544861	chr3:163539586-163539587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528060902	chr3:163539635-163539636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559399004	chr3:163539644-163539645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548915172	chr3:163539665-163539666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527683185	chr3:163539698-163539699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10936366	chr3:163539705-163539706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575776898	chr3:163539720-163539721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570964683	chr3:163539734-163539735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184775040	chr3:163539741-163539742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551626667	chr3:163539784-163539785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190246600	chr3:163539812-163539813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539558848	chr3:163539859-163539860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553384497	chr3:163539872-163539873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1116356	chr3:163539886-163539887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146496474	chr3:163539908-163539909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201591297	chr3:163539917-163539918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182323166	chr3:163539918-163539919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147907255	chr3:163539963-163539964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535909772	chr3:163539971-163539972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368847497	chr3:163542804-163542805	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs568898207	chr3:163542809-163542810	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs371773733	chr3:163542833-163542834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141550582	chr3:163542835-163542836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200235876	chr3:163542849-163542850	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550019895	chr3:163542881-163542882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192154975	chr3:163542903-163542904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184458245	chr3:163542920-163542921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554075546	chr3:163542921-163542922	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190228543	chr3:163542978-163542979	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs193141718	chr3:163543005-163543006	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs80290579	chr3:163543006-163543007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs57825038	chr3:163543040-163543041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562753959	chr3:163543070-163543071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535647210	chr3:163543137-163543138	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531763475	chr3:163543157-163543158	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77058897	chr3:163543188-163543189	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163539400-163540000	Enhancers	Fetal Heart	heart
2	chr3:163542800-163543200	Active TSS	Hela-S3	cervix
3	chr3:163543200-163546600	Weak transcription	Hela-S3	cervix

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