Variant report

Variant	nsv967044
Chromosome Location	chr3:100815456-100817037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190595246	chr3:100815461-100815462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141946477	chr3:100815467-100815468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541747896	chr3:100815474-100815475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183152540	chr3:100815484-100815485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559811252	chr3:100815553-100815554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530121396	chr3:100815559-100815560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150682272	chr3:100815608-100815609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570055897	chr3:100815628-100815629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530886279	chr3:100815632-100815633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187083403	chr3:100815657-100815658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62274080	chr3:100815665-100815666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575016999	chr3:100815691-100815692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535237352	chr3:100815697-100815698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35902618	chr3:100815757-100815758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375212278	chr3:100815788-100815789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565798540	chr3:100815817-100815818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139977202	chr3:100815873-100815874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542429420	chr3:100815874-100815875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192596467	chr3:100815882-100815883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575639701	chr3:100815889-100815890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72940480	chr3:100815914-100815915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59258281	chr3:100815943-100815944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577027853	chr3:100815970-100815971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545752156	chr3:100815971-100815972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560764533	chr3:100815993-100815994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531435091	chr3:100815998-100815999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559260719	chr3:100816014-100816015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143362244	chr3:100816024-100816025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542352462	chr3:100816090-100816091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56135312	chr3:100816157-100816158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76626842	chr3:100816166-100816167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114247702	chr3:100816187-100816188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532273894	chr3:100816204-100816205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80121187	chr3:100816273-100816274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530950642	chr3:100816293-100816294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147133930	chr3:100816379-100816380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100814400-100815600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:100814400-100815600	Enhancers	HSMMtube	muscle
3	chr3:100815200-100816400	Weak transcription	Rectal Smooth Muscle	rectum

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