Variant report

Variant	esv3522495
Chromosome Location	chr3:83890762-83896260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 231 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536463142	chr3:83890795-83890796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73128057	chr3:83890809-83890810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568432673	chr3:83890867-83890868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529388915	chr3:83890869-83890870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547631724	chr3:83890885-83890886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151137129	chr3:83890892-83890893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539695437	chr3:83890896-83890897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558009423	chr3:83890937-83890938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570051000	chr3:83890951-83890952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184960402	chr3:83891014-83891015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76356640	chr3:83891034-83891035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372801265	chr3:83891042-83891043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140251988	chr3:83891078-83891079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553723483	chr3:83891159-83891160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554856537	chr3:83891196-83891197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553632289	chr3:83891251-83891252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190201794	chr3:83891310-83891311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62258023	chr3:83891319-83891320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181383377	chr3:83891339-83891340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114750943	chr3:83891359-83891360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558743742	chr3:83891398-83891399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185866816	chr3:83891420-83891421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543403177	chr3:83891490-83891491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538992979	chr3:83891542-83891543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562119594	chr3:83891550-83891551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567016826	chr3:83891555-83891556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529308990	chr3:83891570-83891571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547869995	chr3:83891571-83891572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556528138	chr3:83891599-83891600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560368013	chr3:83891640-83891641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190775366	chr3:83891668-83891669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558975729	chr3:83891692-83891693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533335492	chr3:83891834-83891835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570047136	chr3:83891849-83891850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181912285	chr3:83891861-83891862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186006034	chr3:83891881-83891882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575626171	chr3:83891885-83891886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190975427	chr3:83891890-83891891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183251766	chr3:83891905-83891906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544256661	chr3:83891909-83891910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28406210	chr3:83891923-83891924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370666239	chr3:83891949-83891950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146530763	chr3:83891955-83891956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568043634	chr3:83891973-83891974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187832803	chr3:83892075-83892076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374050507	chr3:83892141-83892142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553888459	chr3:83892200-83892201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35592946	chr3:83892202-83892203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539614193	chr3:83892242-83892243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557985791	chr3:83892289-83892290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83883800-83897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:83892800-83893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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