Variant report

Variant	esv3399494
Chromosome Location	chr3:83964762-83967010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530926440	chr3:83964794-83964795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114116586	chr3:83964796-83964797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188655693	chr3:83964801-83964802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528574134	chr3:83964860-83964861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556196970	chr3:83964914-83964915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576362926	chr3:83964936-83964937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62259259	chr3:83964977-83964978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192564246	chr3:83965019-83965020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532595677	chr3:83965224-83965225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200017263	chr3:83965226-83965227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550845398	chr3:83965236-83965237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569488695	chr3:83965264-83965265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143054597	chr3:83965271-83965272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369894846	chr3:83965290-83965291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535713269	chr3:83965310-83965311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36113945	chr3:83965317-83965318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534720973	chr3:83965325-83965326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376939148	chr3:83965326-83965327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577898760	chr3:83965342-83965343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545265804	chr3:83965351-83965352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557221193	chr3:83965352-83965353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575454333	chr3:83965368-83965369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542969024	chr3:83965369-83965370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202221596	chr3:83965402-83965403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561140992	chr3:83965430-83965431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549966869	chr3:83965578-83965579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528538304	chr3:83965736-83965737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376577974	chr3:83965803-83965804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540306479	chr3:83965812-83965813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201119671	chr3:83965825-83965826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140058752	chr3:83965909-83965910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541935193	chr3:83965931-83965932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4374543	chr3:83965987-83965988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367723615	chr3:83966068-83966069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200924248	chr3:83966069-83966070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34485830	chr3:83966071-83966072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530334584	chr3:83966091-83966092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368827203	chr3:83966110-83966111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183721089	chr3:83966128-83966129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199590294	chr3:83966143-83966144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112929097	chr3:83966146-83966147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539236842	chr3:83966176-83966177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146936995	chr3:83966177-83966178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566363540	chr3:83966220-83966221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188394966	chr3:83966234-83966235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147391107	chr3:83966237-83966238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373833685	chr3:83966238-83966239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553095863	chr3:83966239-83966240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34954722	chr3:83966250-83966251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373597172	chr3:83966251-83966252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83953600-83977600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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