Variant report

Variant	esv3367013
Chromosome Location	chr3:162954008-162957506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56832071	chr3:162954008-162954009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564667727	chr3:162954021-162954022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578124057	chr3:162954071-162954072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540476032	chr3:162954073-162954074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188821761	chr3:162954075-162954076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559911456	chr3:162954100-162954101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529363917	chr3:162954103-162954104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142541646	chr3:162954107-162954108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150958244	chr3:162954108-162954109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531627583	chr3:162954118-162954119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550840056	chr3:162954143-162954144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570702837	chr3:162954169-162954170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370111553	chr3:162954179-162954180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140826921	chr3:162954183-162954184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546487150	chr3:162954225-162954226	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561763033	chr3:162954295-162954296	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144818602	chr3:162954297-162954298	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11714750	chr3:162954300-162954301	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75888758	chr3:162954344-162954345	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138749734	chr3:162954382-162954383	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79158829	chr3:162954447-162954448	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537493652	chr3:162954514-162954515	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558386858	chr3:162954532-162954533	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140432379	chr3:162954550-162954551	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540788441	chr3:162954556-162954557	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4855295	chr3:162954568-162954569	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573922935	chr3:162954589-162954590	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145586863	chr3:162954619-162954620	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193208930	chr3:162954638-162954639	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531727327	chr3:162954685-162954686	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73013563	chr3:162954688-162954689	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527910383	chr3:162954707-162954708	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564363399	chr3:162954747-162954748	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184699593	chr3:162954760-162954761	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112890663	chr3:162954761-162954762	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9853364	chr3:162954773-162954774	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111343419	chr3:162954778-162954779	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549097015	chr3:162954783-162954784	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568979473	chr3:162954784-162954785	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376649708	chr3:162954787-162954788	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537811005	chr3:162954797-162954798	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162947400-162954200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162953800-162954800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:162954200-162954800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:162954200-162954800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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