Variant report

Variant	esv2528959
Chromosome Location	chr3:180091445-180093820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549948743	chr3:180091449-180091450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569707273	chr3:180091500-180091501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7646778	chr3:180091566-180091567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7646787	chr3:180091591-180091592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113671106	chr3:180091676-180091677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544330203	chr3:180091687-180091688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71971260	chr3:180091696-180091697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565803675	chr3:180091697-180091698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113688309	chr3:180091707-180091708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560899101	chr3:180091726-180091727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569589104	chr3:180091734-180091735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73044393	chr3:180091779-180091780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376002146	chr3:180091803-180091804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539698617	chr3:180091831-180091832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540499107	chr3:180091840-180091841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144875507	chr3:180091907-180091908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542428817	chr3:180091916-180091917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189169253	chr3:180091945-180091946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182503300	chr3:180091994-180091995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541020132	chr3:180092003-180092004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370353922	chr3:180092004-180092005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564189924	chr3:180092005-180092006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112167402	chr3:180092008-180092009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113190399	chr3:180092025-180092026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367639658	chr3:180092060-180092061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372407926	chr3:180092065-180092066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112907583	chr3:180092096-180092097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375494195	chr3:180092125-180092126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368506494	chr3:180092129-180092130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372471480	chr3:180092148-180092149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150199966	chr3:180092191-180092192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551484205	chr3:180092195-180092196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369266137	chr3:180092201-180092202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190498911	chr3:180092216-180092217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181610033	chr3:180092231-180092232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200448716	chr3:180092235-180092236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201191906	chr3:180092242-180092243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371977761	chr3:180092255-180092256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376662371	chr3:180092258-180092259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369121269	chr3:180092266-180092267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371015823	chr3:180092315-180092316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112440500	chr3:180092343-180092344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200208168	chr3:180092344-180092345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376740531	chr3:180092355-180092356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369780581	chr3:180092415-180092416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190165831	chr3:180092563-180092564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182022359	chr3:180092570-180092571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537347187	chr3:180092573-180092574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571221545	chr3:180092586-180092587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185679728	chr3:180092597-180092598	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180086200-180099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:180093800-180094000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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