Variant report

Variant	esv3443341
Chromosome Location	chr18:14998377-15001325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140052142	chr18:14998386-14998387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544254080	chr18:14998398-14998399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564367996	chr18:14998401-14998402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs578005988	chr18:14998417-14998418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540377106	chr18:14998423-14998424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560112628	chr18:14998450-14998451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12964440	chr18:14998461-14998462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12964720	chr18:14998464-14998465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529355854	chr18:14998487-14998488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549196157	chr18:14998495-14998496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562672401	chr18:14998498-14998499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12964455	chr18:14998518-14998519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12965670	chr18:14998521-14998522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531597668	chr18:14998530-14998531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551405559	chr18:14998544-14998545	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375491479	chr18:14998549-14998550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12964475	chr18:14998566-14998567	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534221072	chr18:14998591-14998592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115979659	chr18:14998630-14998631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567777451	chr18:14998637-14998638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114291065	chr18:14998638-14998639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12965849	chr18:14998653-14998654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555147777	chr18:14998673-14998674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12965050	chr18:14998690-14998691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575457853	chr18:14998718-14998719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs12964912	chr18:14998742-14998743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12965987	chr18:14998752-14998753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs184877673	chr18:14998773-14998774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537801430	chr18:14998789-14998790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541744293	chr18:14998804-14998805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557789830	chr18:14998829-14998830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116647164	chr18:14998831-14998832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs540173628	chr18:14998845-14998846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560440673	chr18:14998892-14998893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201926006	chr18:14998928-14998929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs527492143	chr18:14998955-14998956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554072094	chr18:14998975-14998976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573734464	chr18:14999037-14999038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149068313	chr18:14999038-14999039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531698548	chr18:14999056-14999057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544951487	chr18:14999113-14999114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564958480	chr18:14999147-14999148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190106295	chr18:14999148-14999149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547755848	chr18:14999158-14999159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375317146	chr18:14999178-14999179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116971401	chr18:14999240-14999241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116058942	chr18:14999255-14999256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113144887	chr18:14999306-14999307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553624183	chr18:14999312-14999313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550390261	chr18:14999313-14999314	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Schizophrenia	23813976	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14997400-14999800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:14997600-14999400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:14999000-15000400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:14999200-15000400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:14999400-14999600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:14999400-15000000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:14999400-15000200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr18:14999600-15000000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr18:14999600-15000400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:14999600-15000400	Active TSS	Osteobl	bone
11	chr18:14999800-15000200	Enhancers	Placenta	Placenta
12	chr18:14999800-15000400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:15000000-15000400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr18:15000000-15000400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr18:15000000-15000400	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr18:15000400-15001400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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