Variant report

Variant	esv3438086
Chromosome Location	chr3:88702262-88706460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs548210140	chr3:88702270-88702271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557688388	chr3:88702337-88702338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575883085	chr3:88702375-88702376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536955090	chr3:88702400-88702401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555282203	chr3:88702438-88702439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140422584	chr3:88702448-88702449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540697591	chr3:88702463-88702464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs207463301	chr3:88702490-88702491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559383278	chr3:88702499-88702500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201360550	chr3:88702530-88702531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554708695	chr3:88702552-88702553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143941351	chr3:88702566-88702567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564679125	chr3:88702572-88702573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531983269	chr3:88702582-88702583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550494760	chr3:88702601-88702602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35330236	chr3:88702603-88702604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562399688	chr3:88702610-88702611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529274287	chr3:88702666-88702667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192166986	chr3:88702721-88702722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566135642	chr3:88702738-88702739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539552413	chr3:88702804-88702805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184043379	chr3:88702834-88702835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375936493	chr3:88702863-88702864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577496700	chr3:88702882-88702883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565111872	chr3:88702923-88702924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188576221	chr3:88702933-88702934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536891516	chr3:88702935-88702936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561813776	chr3:88703000-88703001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192996467	chr3:88703012-88703013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573885995	chr3:88703034-88703035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182647774	chr3:88703068-88703069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147302222	chr3:88703074-88703075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1979751	chr3:88703092-88703093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs75947533	chr3:88703108-88703109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77883753	chr3:88703112-88703113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79940953	chr3:88703113-88703114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562337461	chr3:88703127-88703128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529579708	chr3:88703128-88703129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77679168	chr3:88703138-88703139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189241684	chr3:88703139-88703140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557278720	chr3:88703204-88703205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140964473	chr3:88703240-88703241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569841959	chr3:88703248-88703249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193236448	chr3:88703289-88703290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201565777	chr3:88703337-88703338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548780903	chr3:88703393-88703394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5850865	chr3:88703434-88703435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539927377	chr3:88703482-88703483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567506807	chr3:88703486-88703487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185657524	chr3:88703492-88703493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88689600-88709800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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