Variant report

Variant	nsv512518
Chromosome Location	chr18:14855492-14860951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1713886	chr18:14860231-14860232	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189291342	chr18:14860232-14860233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs569895791	chr18:14860309-14860310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538984699	chr18:14860321-14860322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375429626	chr18:14860324-14860325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs151258025	chr18:14860334-14860335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs2945650	chr18:14860346-14860347	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs71321689	chr18:14860351-14860352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12456374	chr18:14860365-14860366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs180971858	chr18:14860370-14860371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12453993	chr18:14860374-14860375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12453994	chr18:14860375-14860376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12456377	chr18:14860382-14860383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12453995	chr18:14860387-14860388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112490812	chr18:14860603-14860604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111876374	chr18:14860604-14860605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111394373	chr18:14860605-14860606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184994597	chr18:14860643-14860644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557937178	chr18:14860670-14860671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184118711	chr18:14860687-14860688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576509545	chr18:14860692-14860693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190672333	chr18:14860705-14860706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201748102	chr18:14860711-14860712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1622544	chr18:14860712-14860713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576293150	chr18:14860714-14860715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71201706	chr18:14860747-14860748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545368101	chr18:14860789-14860790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186202440	chr18:14860790-14860791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527550192	chr18:14860824-14860825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1713887	chr18:14860853-14860854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71201705	chr18:14860863-14860864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191891308	chr18:14860883-14860884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71305870	chr18:14860887-14860888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376132787	chr18:14860888-14860889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530242807	chr18:14860900-14860901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183036183	chr18:14860915-14860916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529260224	chr18:14860923-14860924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71350578	chr18:14860925-14860926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569958698	chr18:14860936-14860937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538846536	chr18:14860944-14860945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14860200-14860400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:14860600-14861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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