Variant report

Variant	esv3434767
Chromosome Location	chr3:102125362-102127360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62274723	chr3:102125382-102125383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78445789	chr3:102125420-102125421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144135931	chr3:102125446-102125447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9290688	chr3:102125527-102125528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564841443	chr3:102125560-102125561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368482036	chr3:102125584-102125585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532162680	chr3:102125663-102125664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547234854	chr3:102125664-102125665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190227661	chr3:102125674-102125675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529831082	chr3:102125697-102125698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74726838	chr3:102125709-102125710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377412760	chr3:102125738-102125739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536645084	chr3:102125752-102125753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200680703	chr3:102125784-102125785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559165290	chr3:102125833-102125834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571202073	chr3:102125911-102125912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535229370	chr3:102125912-102125913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553631812	chr3:102125915-102125916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9852572	chr3:102125929-102125930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113523260	chr3:102126089-102126090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557198620	chr3:102126131-102126132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575550393	chr3:102126161-102126162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545915189	chr3:102126173-102126174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73146520	chr3:102126176-102126177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72375094	chr3:102126277-102126278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557241102	chr3:102126284-102126285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186020526	chr3:102126286-102126287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs63183460	chr3:102126287-102126288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371636068	chr3:102126288-102126289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373426356	chr3:102126290-102126291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199930784	chr3:102126315-102126316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532299960	chr3:102126367-102126368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192034617	chr3:102126439-102126440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75860897	chr3:102126441-102126442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35196131	chr3:102126474-102126475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570155795	chr3:102126478-102126479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151014682	chr3:102126599-102126600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140915945	chr3:102126606-102126607	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530517339	chr3:102126624-102126625	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75657199	chr3:102126710-102126711	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150204615	chr3:102126737-102126738	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74450366	chr3:102126743-102126744	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183918569	chr3:102126824-102126825	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188416777	chr3:102126864-102126865	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs62274724	chr3:102126885-102126886	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79077759	chr3:102126943-102126944	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575694404	chr3:102126953-102126954	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190321354	chr3:102126986-102126987	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557761714	chr3:102127039-102127040	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs6771425	chr3:102127045-102127046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102120600-102134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:102122000-102126600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:102126600-102126800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr3:102126800-102127000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:102127000-102127200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:102127000-102128800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:102127200-102127400	Active TSS	Pancreatic Islets	Pancreatic Islet

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