Variant report

Variant	esv275254
Chromosome Location	chr3:179786726-179802042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 542 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1980275	chr3:179786726-179786727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9873975	chr3:179786739-179786740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566195867	chr3:179786825-179786826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147072796	chr3:179786927-179786928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528517029	chr3:179786969-179786970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566406022	chr3:179786979-179786980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369825223	chr3:179787030-179787031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189967540	chr3:179787040-179787041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9878283	chr3:179787046-179787047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs151058809	chr3:179787068-179787069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112606391	chr3:179787100-179787101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536063029	chr3:179787163-179787164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552614447	chr3:179787164-179787165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117001078	chr3:179787194-179787195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140948725	chr3:179787202-179787203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558263209	chr3:179787229-179787230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575232885	chr3:179787244-179787245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543713359	chr3:179787249-179787250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115086970	chr3:179787252-179787253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574252790	chr3:179787257-179787258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543230606	chr3:179787265-179787266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560018182	chr3:179787277-179787278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150184252	chr3:179787305-179787306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551891925	chr3:179787315-179787316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565093788	chr3:179787368-179787369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114096849	chr3:179787402-179787403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181274033	chr3:179787403-179787404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185333660	chr3:179787439-179787440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138652138	chr3:179787449-179787450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536174781	chr3:179787493-179787494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564407575	chr3:179787635-179787636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533056396	chr3:179787683-179787684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549996420	chr3:179787689-179787690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116462639	chr3:179787696-179787697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188194855	chr3:179787754-179787755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557960373	chr3:179787783-179787784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140370287	chr3:179787807-179787808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538343733	chr3:179787855-179787856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79195499	chr3:179787923-179787924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575081706	chr3:179787934-179787935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548673677	chr3:179787940-179787941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375003462	chr3:179788017-179788018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180685973	chr3:179788059-179788060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574368319	chr3:179788145-179788146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543391690	chr3:179788150-179788151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116233597	chr3:179788179-179788180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111295206	chr3:179788181-179788182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145561394	chr3:179788188-179788189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138071808	chr3:179788210-179788211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6780178	chr3:179788215-179788216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Melanoma	20877625	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179777800-179791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:179788600-179788800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:179788600-179789200	Enhancers	Dnd41	blood
4	chr3:179788800-179789000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr3:179788800-179789200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:179788800-179791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:179789000-179789200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:179789000-179791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:179789200-179790400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:179789400-179790400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:179790000-179791400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:179790400-179791000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:179790400-179791200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:179790400-179791400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:179790400-179791600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:179790400-179791800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:179790400-179791800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:179790400-179791800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:179790800-179791400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:179791000-179791200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:179791000-179791400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr3:179791000-179792400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:179791200-179791800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:179791200-179792400	Enhancers	HMEC	breast
25	chr3:179791200-179796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:179791600-179796400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:179791800-179792000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:179791800-179792600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:179791800-179796400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:179792000-179792400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:179792400-179796400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:179792400-179809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:179796400-179796800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr3:179796400-179797200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:179796400-179797200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:179796600-179797200	Enhancers	HUES48 Cell Line	embryonic stem cell

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