Variant report

Variant	nsv960641
Chromosome Location	chr18:99679-101605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531439295	chr18:99706-99707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9675932	chr18:99707-99708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561572395	chr18:99734-99735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16973577	chr18:99779-99780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183696524	chr18:99783-99784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367723397	chr18:99790-99791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188787071	chr18:99855-99856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371556755	chr18:99856-99857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533036069	chr18:99857-99858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201537947	chr18:99872-99873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59950821	chr18:99882-99883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56236075	chr18:99898-99899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373519024	chr18:99916-99917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75965893	chr18:99918-99919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56115962	chr18:99938-99939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs369762538	chr18:99942-99943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56276932	chr18:99950-99951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs187124294	chr18:99951-99952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56874723	chr18:99954-99955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9675432	chr18:99977-99978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375991047	chr18:99983-99984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60578953	chr18:99998-99999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558437313	chr18:99999-100000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9675766	chr18:100003-100004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569293883	chr18:100005-100006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543578862	chr18:100012-100013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76172692	chr18:100018-100019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56110316	chr18:100041-100042	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs541029133	chr18:100045-100046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199935684	chr18:100057-100058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76037234	chr18:100059-100060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533101884	chr18:100060-100061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56254327	chr18:100083-100084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144608628	chr18:100096-100097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80028019	chr18:100113-100114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200840495	chr18:100114-100115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569549079	chr18:100127-100128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74778902	chr18:100134-100135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548877642	chr18:100138-100139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201820819	chr18:100147-100148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568556067	chr18:100161-100162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60167364	chr18:100167-100168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs56122605	chr18:100170-100171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs193288620	chr18:100199-100200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201584738	chr18:100221-100222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56338502	chr18:100224-100225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs540178529	chr18:100241-100242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59998422	chr18:100246-100247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55896558	chr18:100247-100248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs199981704	chr18:100253-100254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:98800-106000	Weak transcription	K562	blood

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