Variant report

Variant	nsv1013168
Chromosome Location	chr3:78471190-78482181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1512492	chr3:78471190-78471191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370821387	chr3:78471197-78471198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4542984	chr3:78471219-78471220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73111843	chr3:78471269-78471270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529582771	chr3:78471301-78471302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115496699	chr3:78471304-78471305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569505933	chr3:78471308-78471309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76335046	chr3:78471311-78471312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531919024	chr3:78471343-78471344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180901291	chr3:78471376-78471377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550449341	chr3:78471404-78471405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570517132	chr3:78471415-78471416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75880279	chr3:78471423-78471424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550082095	chr3:78471432-78471433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552887728	chr3:78471441-78471442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566451862	chr3:78471446-78471447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186311342	chr3:78471482-78471483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543509901	chr3:78471532-78471533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140184266	chr3:78471544-78471545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555228930	chr3:78471555-78471556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534904679	chr3:78471602-78471603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76679375	chr3:78471627-78471628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544395314	chr3:78471642-78471643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189623604	chr3:78471647-78471648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73111844	chr3:78471693-78471694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578009208	chr3:78471698-78471699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540288538	chr3:78471732-78471733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181594474	chr3:78471744-78471745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577196107	chr3:78471769-78471770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147854073	chr3:78471776-78471777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574066907	chr3:78471784-78471785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543369285	chr3:78471839-78471840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563171267	chr3:78471871-78471872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563013452	chr3:78471877-78471878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531982921	chr3:78471881-78471882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551911979	chr3:78471927-78471928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564029928	chr3:78471936-78471937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143137688	chr3:78471967-78471968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534931852	chr3:78471989-78471990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186207845	chr3:78471993-78471994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115589696	chr3:78472064-78472065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17016069	chr3:78472085-78472086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372911726	chr3:78472098-78472099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9812819	chr3:78472139-78472140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145451587	chr3:78472160-78472161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148409701	chr3:78472252-78472253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568804763	chr3:78472259-78472260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537644719	chr3:78472267-78472268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561907849	chr3:78472268-78472269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191120747	chr3:78472277-78472278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78470400-78471400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:78470400-78471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:78470400-78471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:78470400-78471600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:78470600-78472000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:78471000-78472400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:78471400-78472600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:78472400-78473200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:78473000-78473200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:78473200-78473400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:78475400-78476000	Enhancers	Pancreatic Islets	Pancreatic Islet

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