Variant report

Variant	esv3324779
Chromosome Location	chr3:180176945-180177199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115021743	chr3:180176951-180176952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142764958	chr3:180176954-180176955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367699794	chr3:180176958-180176959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200131908	chr3:180176959-180176960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569419963	chr3:180176981-180176982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143452882	chr3:180176984-180176985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555038129	chr3:180176987-180176988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147130491	chr3:180176992-180176993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376447196	chr3:180176994-180176995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541005018	chr3:180176997-180176998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140210542	chr3:180177001-180177002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181365517	chr3:180177004-180177005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546431433	chr3:180177005-180177006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184450802	chr3:180177006-180177007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113124028	chr3:180177009-180177010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542370847	chr3:180177015-180177016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201266800	chr3:180177018-180177019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562198631	chr3:180177020-180177021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199706655	chr3:180177023-180177024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116025479	chr3:180177024-180177025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144341752	chr3:180177028-180177029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148781886	chr3:180177039-180177040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142403417	chr3:180177041-180177042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375120644	chr3:180177045-180177046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189381581	chr3:180177050-180177051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28647774	chr3:180177053-180177054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146825731	chr3:180177054-180177055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180731854	chr3:180177058-180177059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534342076	chr3:180177065-180177066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377092299	chr3:180177066-180177067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62291002	chr3:180177069-180177070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186499475	chr3:180177080-180177081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139606878	chr3:180177083-180177084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190843457	chr3:180177084-180177085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181623451	chr3:180177088-180177089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144211267	chr3:180177095-180177096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62291003	chr3:180177096-180177097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541074648	chr3:180177099-180177100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564543944	chr3:180177103-180177104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140885328	chr3:180177110-180177111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549689812	chr3:180177113-180177114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150156545	chr3:180177114-180177115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145619909	chr3:180177118-180177119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549131463	chr3:180177120-180177121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545118016	chr3:180177122-180177123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377637520	chr3:180177125-180177126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113531115	chr3:180177126-180177127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551186023	chr3:180177136-180177137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571291021	chr3:180177140-180177141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186057205	chr3:180177143-180177144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180176000-180184600	Weak transcription	HMEC	breast
2	chr3:180176000-180187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:180176400-180178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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