Variant report

Variant	esv3415061
Chromosome Location	chr3:82785462-82789160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114898498	chr3:82785465-82785466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547800030	chr3:82785476-82785477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1477828	chr3:82785486-82785487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186352627	chr3:82785538-82785539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568012053	chr3:82785583-82785584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568001105	chr3:82785585-82785586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115671074	chr3:82785587-82785588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570189530	chr3:82785590-82785591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140485231	chr3:82785599-82785600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144558227	chr3:82785616-82785617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145619891	chr3:82785692-82785693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148890632	chr3:82785757-82785758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554588754	chr3:82785849-82785850	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142277306	chr3:82785877-82785878	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543584419	chr3:82785896-82785897	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373267894	chr3:82785907-82785908	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191100366	chr3:82785918-82785919	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577237516	chr3:82785998-82785999	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74794433	chr3:82786003-82786004	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183524555	chr3:82786014-82786015	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114063434	chr3:82786015-82786016	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548502071	chr3:82786030-82786031	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533308041	chr3:82786040-82786041	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561570560	chr3:82786080-82786081	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530510671	chr3:82786081-82786082	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186706129	chr3:82786087-82786088	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74682357	chr3:82786088-82786089	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539115053	chr3:82786096-82786097	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552365706	chr3:82786114-82786115	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565890372	chr3:82786132-82786133	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116148187	chr3:82786140-82786141	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554825622	chr3:82786155-82786156	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35796563	chr3:82786170-82786171	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574765315	chr3:82786219-82786220	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79156479	chr3:82786251-82786252	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140620746	chr3:82786385-82786386	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145678308	chr3:82786404-82786405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112427823	chr3:82786408-82786409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546272189	chr3:82786411-82786412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6783249	chr3:82786415-82786416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191215150	chr3:82786422-82786423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527702107	chr3:82786423-82786424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548831488	chr3:82786444-82786445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374059368	chr3:82786451-82786452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542181035	chr3:82786463-82786464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567685136	chr3:82786503-82786504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530689198	chr3:82786553-82786554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550568707	chr3:82786592-82786593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182806322	chr3:82786620-82786621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563889273	chr3:82786643-82786644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82782400-82792400	Weak transcription	Gastric	stomach
2	chr3:82785400-82785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:82785600-82786200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:82785600-82786200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:82785600-82786200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:82785800-82786000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:82785800-82786000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:82785800-82786200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:82785800-82786200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:82785800-82786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:82785800-82786200	Active TSS	Brain Hippocampus Middle	brain
12	chr3:82785800-82786400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:82785800-82786400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:82785800-82786400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:82786000-82786200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:82786000-82786200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:82786000-82786200	Enhancers	Left Ventricle	heart
18	chr3:82786000-82786400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:82786000-82786400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:82786000-82786400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:82786000-82786400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:82786200-82789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:82786200-82789600	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:82786200-82789800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:82786400-82789600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:82786400-82789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:82786400-82789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:82788800-82790200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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