Variant report

Variant	esv3371612
Chromosome Location	chr3:59478812-59483010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552150751	chr3:59481605-59481606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10510812	chr3:59481606-59481607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6446064	chr3:59481630-59481631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540373000	chr3:59481633-59481634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556701966	chr3:59481642-59481643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115395541	chr3:59481656-59481657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536086461	chr3:59481658-59481659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554393734	chr3:59481665-59481666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572515877	chr3:59481670-59481671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190272967	chr3:59481690-59481691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6788906	chr3:59481696-59481697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576783063	chr3:59481697-59481698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79161937	chr3:59481741-59481742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149309603	chr3:59481788-59481789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115700113	chr3:59481805-59481806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182200973	chr3:59481817-59481818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11130713	chr3:59481821-59481822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs61553534	chr3:59481902-59481903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116051848	chr3:59481959-59481960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561300858	chr3:59481971-59481972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576944411	chr3:59481975-59481976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528488480	chr3:59481982-59481983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373388534	chr3:59481990-59481991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6446065	chr3:59482013-59482014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545924629	chr3:59482014-59482015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143546102	chr3:59482068-59482069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138046822	chr3:59482102-59482103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186459583	chr3:59482140-59482141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192352728	chr3:59482142-59482143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539607696	chr3:59482185-59482186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35775639	chr3:59482190-59482191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558470461	chr3:59482235-59482236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576659278	chr3:59482241-59482242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543830384	chr3:59482259-59482260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532507987	chr3:59482265-59482266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185539470	chr3:59482283-59482284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562553103	chr3:59482297-59482298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367547485	chr3:59482298-59482299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555721728	chr3:59482304-59482305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188853554	chr3:59482353-59482354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541546206	chr3:59482364-59482365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559179663	chr3:59482399-59482400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7620213	chr3:59482405-59482406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143547803	chr3:59482422-59482423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12497436	chr3:59482435-59482436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531622803	chr3:59482442-59482443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4464395	chr3:59482472-59482473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147157785	chr3:59482501-59482502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34778590	chr3:59482545-59482546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76436978	chr3:59482548-59482549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59481600-59482000	Enhancers	Fetal Thymus	thymus
2	chr3:59481600-59482400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:59481800-59484000	Enhancers	GM12878-XiMat	blood
4	chr3:59482000-59483800	Weak transcription	Fetal Thymus	thymus

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