Variant report

Variant	esv3365355
Chromosome Location	chr3:59852359-59853495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79476750	chr3:59852370-59852371	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549343676	chr3:59852460-59852461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373487853	chr3:59852473-59852474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560911080	chr3:59852476-59852477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535311297	chr3:59852489-59852490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546841562	chr3:59852516-59852517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11925272	chr3:59852555-59852556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539215061	chr3:59852566-59852567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571257287	chr3:59852577-59852578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146981173	chr3:59852580-59852581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532376747	chr3:59852581-59852582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569714320	chr3:59852588-59852589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113057717	chr3:59852607-59852608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555518610	chr3:59852625-59852626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138057235	chr3:59852639-59852640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182860683	chr3:59852645-59852646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74346247	chr3:59852646-59852647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186706845	chr3:59852651-59852652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9862811	chr3:59852664-59852665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563371437	chr3:59852679-59852680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575411826	chr3:59852688-59852689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77468155	chr3:59852700-59852701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542724446	chr3:59852724-59852725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554785381	chr3:59852728-59852729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528426713	chr3:59852730-59852731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141669460	chr3:59852735-59852736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565237241	chr3:59852740-59852741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191093781	chr3:59852751-59852752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182907899	chr3:59852760-59852761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551140778	chr3:59852785-59852786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9866478	chr3:59852846-59852847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536872943	chr3:59852849-59852850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534066959	chr3:59852850-59852851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543416060	chr3:59852881-59852882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368283520	chr3:59852889-59852890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376180772	chr3:59852903-59852904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200247307	chr3:59852904-59852905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201790872	chr3:59852920-59852921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187459050	chr3:59852925-59852926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567379678	chr3:59852954-59852955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115666606	chr3:59852955-59852956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192523970	chr3:59852956-59852957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150518281	chr3:59853017-59853018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77923409	chr3:59853082-59853083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs591934	chr3:59853123-59853124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138389144	chr3:59853192-59853193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542420579	chr3:59853244-59853245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552319841	chr3:59853254-59853255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554631790	chr3:59853257-59853258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79016135	chr3:59853279-59853280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59843600-59853200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:59843600-59853200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:59843600-59854200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:59843800-59852800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr3:59848000-59852400	Strong transcription	Dnd41	blood
6	chr3:59850000-59852400	Strong transcription	Primary T cells from cord blood	blood
7	chr3:59850000-59864000	Weak transcription	Fetal Thymus	thymus
8	chr3:59850400-59853400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:59851400-59852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:59851400-59852600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:59851600-59852600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:59851600-59853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:59851600-59857800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:59851800-59852400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:59851800-59852600	Enhancers	HMEC	breast
16	chr3:59852200-59852400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:59852200-59855200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:59852400-59852600	Weak transcription	Primary T cells from cord blood	blood
19	chr3:59852400-59854400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:59852400-59857400	Weak transcription	Dnd41	blood
21	chr3:59852600-59853400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:59852600-59855200	Enhancers	Primary T cells from cord blood	blood
23	chr3:59852800-59855000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:59852800-59859800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:59853200-59853400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:59853200-59853800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:59853200-59855000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr3:59853400-59853800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:59853400-59853800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:59853400-59854000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:59853400-59855200	Enhancers	Primary T helper cells fromperipheralblood	blood

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