Variant report

Variant	nsv522368
Chromosome Location	chr3:97994268-97995163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1011205	chr3:97994268-97994269	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560762797	chr3:97994281-97994282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73856520	chr3:97994302-97994303	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139089396	chr3:97994307-97994308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149474052	chr3:97994309-97994310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573054736	chr3:97994317-97994318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73856521	chr3:97994324-97994325	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531473131	chr3:97994350-97994351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75768359	chr3:97994363-97994364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs550502207	chr3:97994381-97994382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564943550	chr3:97994411-97994412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575303226	chr3:97994412-97994413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141845116	chr3:97994462-97994463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550564656	chr3:97994467-97994468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529533436	chr3:97994475-97994476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181373231	chr3:97994503-97994504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570410773	chr3:97994512-97994513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559804024	chr3:97994568-97994569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147127052	chr3:97994569-97994570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79647647	chr3:97994592-97994593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564499563	chr3:97994605-97994606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4465980	chr3:97994630-97994631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112830592	chr3:97994650-97994651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71623589	chr3:97994666-97994667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57493820	chr3:97994667-97994668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537030191	chr3:97994692-97994693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550686759	chr3:97994708-97994709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567390494	chr3:97994730-97994731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536054597	chr3:97994751-97994752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149604582	chr3:97994784-97994785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572950688	chr3:97994794-97994795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4426709	chr3:97994823-97994824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs78399523	chr3:97994831-97994832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373678351	chr3:97994861-97994862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184860408	chr3:97994877-97994878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544200397	chr3:97994888-97994889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143351256	chr3:97994914-97994915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73856522	chr3:97994921-97994922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565802887	chr3:97994931-97994932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79461789	chr3:97995016-97995017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559941221	chr3:97995041-97995042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113365683	chr3:97995043-97995044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528667640	chr3:97995052-97995053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4464498	chr3:97995057-97995058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73856523	chr3:97995086-97995087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75321195	chr3:97995112-97995113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570268254	chr3:97995113-97995114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148318019	chr3:97995153-97995154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6796881	chr3:97995163-97995164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97993400-97994400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:97993800-97994400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:97994200-97994600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:97994400-97997600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links