Variant report

Variant	esv3336328
Chromosome Location	chr3:85706862-85708860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201490851	chr3:85706862-85706863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13095850	chr3:85706863-85706864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142144662	chr3:85706864-85706865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199646059	chr3:85706866-85706867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13075316	chr3:85706875-85706876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13095541	chr3:85706891-85706892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556407145	chr3:85706912-85706913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200527122	chr3:85706924-85706925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566824687	chr3:85706926-85706927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67516819	chr3:85706927-85706928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191531647	chr3:85706929-85706930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35395661	chr3:85707018-85707019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575919955	chr3:85707021-85707022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542638674	chr3:85707034-85707035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147137992	chr3:85707037-85707038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184651643	chr3:85707069-85707070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139652378	chr3:85707083-85707084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373263505	chr3:85707107-85707108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368760565	chr3:85707121-85707122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565420211	chr3:85707150-85707151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533158594	chr3:85707152-85707153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545253209	chr3:85707175-85707176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76360731	chr3:85707181-85707182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149740439	chr3:85707318-85707319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564286141	chr3:85707319-85707320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13101056	chr3:85707484-85707485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549027050	chr3:85707494-85707495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12498070	chr3:85707511-85707512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528087327	chr3:85707546-85707547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144561047	chr3:85707621-85707622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569958205	chr3:85707622-85707623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370491279	chr3:85707631-85707632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571058434	chr3:85707716-85707717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370743679	chr3:85707759-85707760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397990421	chr3:85707763-85707764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200149021	chr3:85707765-85707766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12488677	chr3:85707767-85707768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188267167	chr3:85707823-85707824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373174992	chr3:85707943-85707944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377286475	chr3:85707951-85707952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536923662	chr3:85708057-85708058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554967834	chr3:85708099-85708100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200271367	chr3:85708202-85708203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201189284	chr3:85708203-85708204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66813216	chr3:85708204-85708205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71112106	chr3:85708235-85708236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180926900	chr3:85708236-85708237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573181045	chr3:85708264-85708265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143708461	chr3:85708302-85708303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185829533	chr3:85708303-85708304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	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
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85695400-85708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:85708800-85709600	Enhancers	Cortex derived primary cultured neurospheres	brain

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