Variant report

Variant	nsv980111
Chromosome Location	chr3:79965039-79976663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:53846577..53847078-chr3:79971381..79971881,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000197111	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 74 )

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	rs547711225	chr3:79971381-79971382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144252016	chr3:79971551-79971552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536165767	chr3:79971557-79971558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146582771	chr3:79971562-79971563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551037145	chr3:79971588-79971589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566554512	chr3:79971611-79971612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182759295	chr3:79971732-79971733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79777543	chr3:79971738-79971739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141027969	chr3:79971747-79971748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533950595	chr3:79971760-79971761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116817384	chr3:79971803-79971804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536611189	chr3:79971817-79971818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558120533	chr3:79971826-79971827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540669953	chr3:79971854-79971855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373771846	chr3:79971860-79971861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376756975	chr3:79971861-79971862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs398106085	chr3:79971866-79971867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554145195	chr3:79971879-79971880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559263194	chr3:79974420-79974421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545119741	chr3:79974424-79974425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201316015	chr3:79974473-79974474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528267126	chr3:79974603-79974604	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535883793	chr3:79974623-79974624	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561935502	chr3:79974651-79974652	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530495978	chr3:79974652-79974653	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572561295	chr3:79974657-79974658	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs9309842	chr3:79974678-79974679	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570448738	chr3:79974716-79974717	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533001921	chr3:79974744-79974745	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547313190	chr3:79974759-79974760	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567119705	chr3:79974766-79974767	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs536153030	chr3:79974800-79974801	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145833552	chr3:79974896-79974897	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11916974	chr3:79974915-79974916	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11441949	chr3:79974917-79974918	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537930468	chr3:79974921-79974922	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558265695	chr3:79974926-79974927	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2200209	chr3:79974942-79974943	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558826311	chr3:79974986-79974987	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560066801	chr3:79975034-79975035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186318576	chr3:79975062-79975063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561470707	chr3:79975105-79975106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529477669	chr3:79975160-79975161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190781470	chr3:79975224-79975225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148227943	chr3:79975231-79975232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2200208	chr3:79975233-79975234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578141332	chr3:79975236-79975237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371862500	chr3:79975261-79975262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182893648	chr3:79975278-79975279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78476174	chr3:79975300-79975301	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79974400-79974600	Enhancers	HUVEC	blood vessel
2	chr3:79974600-79975000	Flanking Active TSS	HUVEC	blood vessel
3	chr3:79975000-79975400	Enhancers	HUVEC	blood vessel
4	chr3:79976600-79979400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links