Variant report

Variant	esv3402570
Chromosome Location	chr18:14467452-14470150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74718546	chr18:14467462-14467463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540264248	chr18:14467467-14467468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79176607	chr18:14467480-14467481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536762421	chr18:14467492-14467493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148316272	chr18:14467493-14467494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183550585	chr18:14467502-14467503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141480258	chr18:14467507-14467508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75714851	chr18:14467540-14467541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533921547	chr18:14467543-14467544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77908056	chr18:14467549-14467550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558245056	chr18:14467604-14467605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573273467	chr18:14467615-14467616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4080992	chr18:14467626-14467627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370974055	chr18:14467632-14467633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575662673	chr18:14467667-14467668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6505908	chr18:14467720-14467721	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6505909	chr18:14467741-14467742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577854803	chr18:14467760-14467761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540519851	chr18:14467773-14467774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12961396	chr18:14467797-14467798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188279521	chr18:14467805-14467806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12961511	chr18:14467806-14467807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371892758	chr18:14467831-14467832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548133918	chr18:14467855-14467856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111779678	chr18:14467870-14467871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561551564	chr18:14467890-14467891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7237242	chr18:14467901-14467902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs367953326	chr18:14467919-14467920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550438693	chr18:14467925-14467926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570652191	chr18:14467929-14467930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12960542	chr18:14467941-14467942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192428655	chr18:14467951-14467952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12960806	chr18:14467962-14467963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12960552	chr18:14467968-14467969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183839664	chr18:14467969-14467970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535402430	chr18:14467978-14467979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555708424	chr18:14467984-14467985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12960556	chr18:14467986-14467987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186981606	chr18:14468043-14468044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12964127	chr18:14468046-14468047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12964136	chr18:14468062-14468063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558013997	chr18:14468069-14468070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144902860	chr18:14468134-14468135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191246711	chr18:14468179-14468180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184218191	chr18:14468242-14468243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187045068	chr18:14468244-14468245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564753111	chr18:14468247-14468248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148618381	chr18:14468309-14468310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542980003	chr18:14468314-14468315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73412708	chr18:14468370-14468371	Enhancers 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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14458600-14470000	Weak transcription	Osteobl	bone
2	chr18:14466600-14471600	Enhancers	HMEC	breast
3	chr18:14469200-14470000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:14469600-14471400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14469800-14471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:14470000-14470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:14470000-14470600	Enhancers	Osteobl	bone
8	chr18:14470000-14470800	Enhancers	Placenta	Placenta
9	chr18:14470000-14471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:14470000-14471200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:14470000-14472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:14470000-14472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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