Variant report

Variant	nsv980016
Chromosome Location	chr3:83261917-83273495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
2	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
3	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
4	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
5	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:
6	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
7	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-5	chr3:83267285-83267522	NONHSAT090630

No data

Extended variants
information (count: 151 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs199668007	chr3:83266002-83266003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564604756	chr3:83266070-83266071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187190955	chr3:83266074-83266075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370288000	chr3:83266108-83266109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191014328	chr3:83266130-83266131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140223096	chr3:83266183-83266184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377726375	chr3:83266189-83266190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531748707	chr3:83266196-83266197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549036434	chr3:83266238-83266239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569023143	chr3:83266252-83266253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537831948	chr3:83266330-83266331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538875518	chr3:83266365-83266366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181028339	chr3:83266381-83266382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371373803	chr3:83266411-83266412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186435326	chr3:83266465-83266466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571445984	chr3:83266485-83266486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9848958	chr3:83266487-83266488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568136036	chr3:83266489-83266490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190208611	chr3:83266496-83266497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560652289	chr3:83266525-83266526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573853653	chr3:83266531-83266532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77230683	chr3:83266560-83266561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9811656	chr3:83266572-83266573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139052154	chr3:83266591-83266592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576235046	chr3:83266595-83266596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182597748	chr3:83266629-83266630	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370282099	chr3:83266635-83266636	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185713131	chr3:83266703-83266704	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527297416	chr3:83266767-83266768	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs190524563	chr3:83266780-83266781	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560433240	chr3:83266784-83266785	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529410954	chr3:83266792-83266793	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549197685	chr3:83266798-83266799	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183234859	chr3:83266838-83266839	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188941131	chr3:83266844-83266845	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs373956044	chr3:83266898-83266899	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs113229614	chr3:83266965-83266966	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11706514	chr3:83266972-83266973	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531734886	chr3:83266978-83266979	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551472357	chr3:83266982-83266983	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556228870	chr3:83267003-83267004	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146506156	chr3:83267020-83267021	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554000807	chr3:83267040-83267041	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs567602091	chr3:83267049-83267050	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371914030	chr3:83267053-83267054	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192666591	chr3:83267085-83267086	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576196784	chr3:83267113-83267114	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113561363	chr3:83267127-83267128	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569647493	chr3:83267134-83267135	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140894068	chr3:83267145-83267146	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83266000-83266400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:83266200-83267000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:83266600-83267600	Active TSS	K562	blood
4	chr3:83267000-83267600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:83267600-83268200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:83267800-83268000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:83272000-83274600	Enhancers	HUVEC	blood vessel
8	chr3:83272800-83274000	Enhancers	NHEK	skin
9	chr3:83273000-83274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:83273200-83273600	Enhancers	NH-A	brain
11	chr3:83273200-83274000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:83273200-83274000	Enhancers	Ovary	ovary
13	chr3:83273200-83274200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:83273200-83274600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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