Variant report

Variant	esv3337891
Chromosome Location	chr3:158813058-158819906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559014781	chr3:158819008-158819009	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529845566	chr3:158819012-158819013	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549290071	chr3:158819019-158819020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371851916	chr3:158819025-158819026	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374815943	chr3:158819031-158819032	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369165707	chr3:158819035-158819036	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369536962	chr3:158819041-158819042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373339273	chr3:158819046-158819047	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568257208	chr3:158819052-158819053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377519595	chr3:158819053-158819054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111393246	chr3:158819067-158819068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550467902	chr3:158819101-158819102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139200163	chr3:158819120-158819121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538992678	chr3:158819123-158819124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141727428	chr3:158819129-158819130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373881554	chr3:158819146-158819147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147203456	chr3:158819147-158819148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182907414	chr3:158819161-158819162	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs9825539	chr3:158819162-158819163	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144263366	chr3:158819195-158819196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs367770193	chr3:158819220-158819221	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566482960	chr3:158819226-158819227	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147382551	chr3:158819252-158819253	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530213565	chr3:158819259-158819260	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370039088	chr3:158819290-158819291	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139005582	chr3:158819316-158819317	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188163776	chr3:158819321-158819322	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192373658	chr3:158819325-158819326	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558952786	chr3:158819340-158819341	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183623595	chr3:158819346-158819347	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187900264	chr3:158819355-158819356	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563260628	chr3:158819368-158819369	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73027608	chr3:158819382-158819383	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538932800	chr3:158819386-158819387	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149885522	chr3:158819391-158819392	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76154220	chr3:158819416-158819417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192504871	chr3:158819419-158819420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547789681	chr3:158819423-158819424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566096985	chr3:158819436-158819437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145397684	chr3:158819469-158819470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543627253	chr3:158819473-158819474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548619334	chr3:158819483-158819484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184686444	chr3:158819523-158819524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111927549	chr3:158819543-158819544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78949390	chr3:158819617-158819618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9826407	chr3:158819618-158819619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542275721	chr3:158819623-158819624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79781224	chr3:158819624-158819625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61796008	chr3:158819669-158819670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2364930	chr3:158819701-158819702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158819000-158819400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:158819200-158819400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:158819400-158823800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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