Variant report

Variant	esv3385233
Chromosome Location	chr18:14464152-14468250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs531440765	chr18:14464170-14464171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112522292	chr18:14464230-14464231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544836914	chr18:14464231-14464232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71332223	chr18:14464264-14464265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71332222	chr18:14464271-14464272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71332221	chr18:14464299-14464300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71332220	chr18:14464313-14464314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71332219	chr18:14464343-14464344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527554758	chr18:14464371-14464372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547317943	chr18:14464372-14464373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567309894	chr18:14464438-14464439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192393849	chr18:14464458-14464459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141158322	chr18:14464464-14464465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369055115	chr18:14464475-14464476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555888273	chr18:14464558-14464559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199740478	chr18:14464598-14464599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570009902	chr18:14464610-14464611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184580738	chr18:14464632-14464633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558853179	chr18:14464638-14464639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566985014	chr18:14464644-14464645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566301653	chr18:14464748-14464749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188236010	chr18:14464772-14464773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533898423	chr18:14464773-14464774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573674687	chr18:14464824-14464825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565099495	chr18:14464851-14464852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542210837	chr18:14464856-14464857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150320045	chr18:14464865-14464866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9962648	chr18:14464903-14464904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545111257	chr18:14464906-14464907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34945201	chr18:14464934-14464935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564719247	chr18:14464958-14464959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9962504	chr18:14464959-14464960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191927016	chr18:14464965-14464966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200670057	chr18:14464992-14464993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560898428	chr18:14465051-14465052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571055693	chr18:14465054-14465055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549870870	chr18:14465056-14465057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148367251	chr18:14465117-14465118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556326007	chr18:14465126-14465127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184162831	chr18:14465148-14465149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574720937	chr18:14465188-14465189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374539237	chr18:14465189-14465190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189093483	chr18:14465197-14465198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74522370	chr18:14465206-14465207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548803121	chr18:14465217-14465218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568730416	chr18:14465242-14465243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181472577	chr18:14465261-14465262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187273397	chr18:14465262-14465263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542040930	chr18:14465278-14465279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576016953	chr18:14465282-14465283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14458600-14470000	Weak transcription	Osteobl	bone
2	chr18:14465600-14465800	Enhancers	HMEC	breast
3	chr18:14465800-14466600	Weak transcription	HMEC	breast
4	chr18:14466600-14467200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:14466600-14471600	Enhancers	HMEC	breast

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