Variant report

Variant	esv3419401
Chromosome Location	chr3:102205015-102206782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536466224	chr3:102205066-102205067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78865812	chr3:102205119-102205120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78427160	chr3:102205121-102205122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143528330	chr3:102205136-102205137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377408563	chr3:102205137-102205138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554342997	chr3:102205168-102205169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112179785	chr3:102205192-102205193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58666822	chr3:102205210-102205211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144126572	chr3:102205258-102205259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568071292	chr3:102205295-102205296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370728162	chr3:102205299-102205300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545876749	chr3:102205328-102205329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533383228	chr3:102205349-102205350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564937450	chr3:102205350-102205351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146520075	chr3:102205373-102205374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541277862	chr3:102205391-102205392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559626312	chr3:102205434-102205435	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530195168	chr3:102205477-102205478	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141208429	chr3:102205479-102205480	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11715985	chr3:102205484-102205485	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559390819	chr3:102205486-102205487	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190343802	chr3:102205527-102205528	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193188158	chr3:102205533-102205534	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570814398	chr3:102205560-102205561	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535027231	chr3:102205583-102205584	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547680891	chr3:102205587-102205588	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566002505	chr3:102205592-102205593	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150205640	chr3:102205594-102205595	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371956269	chr3:102205691-102205692	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138784585	chr3:102205717-102205718	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184449972	chr3:102205724-102205725	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188751681	chr3:102205753-102205754	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530819730	chr3:102205754-102205755	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528286242	chr3:102205761-102205762	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548126607	chr3:102205762-102205763	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540637134	chr3:102205771-102205772	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116226415	chr3:102205779-102205780	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574820702	chr3:102205809-102205810	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181127807	chr3:102205834-102205835	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550610175	chr3:102205836-102205837	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530904948	chr3:102205966-102205967	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546238740	chr3:102205975-102205976	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148963746	chr3:102205992-102205993	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185341861	chr3:102206007-102206008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs547047046	chr3:102206022-102206023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565968070	chr3:102206029-102206030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189264591	chr3:102206041-102206042	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73150403	chr3:102206080-102206081	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569783782	chr3:102206082-102206083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs180852910	chr3:102206116-102206117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102198200-102207600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:102199600-102205200	Weak transcription	Small Intestine	intestine
3	chr3:102204600-102205200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:102204800-102205400	Weak transcription	Fetal Intestine Small	intestine
5	chr3:102205200-102206000	Enhancers	Small Intestine	intestine
6	chr3:102205400-102206200	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr3:102205600-102206000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:102206000-102211400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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