Variant report

Variant	esv2550998
Chromosome Location	chr18:7297243-7298640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529475862	chr18:7297255-7297256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549152808	chr18:7297276-7297277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76871792	chr18:7297319-7297320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535325220	chr18:7297329-7297330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578207233	chr18:7297350-7297351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571628301	chr18:7297413-7297414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554392776	chr18:7297420-7297421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57949642	chr18:7297476-7297477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183375722	chr18:7297498-7297499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557516128	chr18:7297555-7297556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145193754	chr18:7297571-7297572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536490782	chr18:7297597-7297598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373167859	chr18:7297622-7297623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59471024	chr18:7297653-7297654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564305535	chr18:7297655-7297656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545439455	chr18:7297683-7297684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567725110	chr18:7297740-7297741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545299160	chr18:7297747-7297748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559393038	chr18:7297796-7297797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188781922	chr18:7297801-7297802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192188293	chr18:7297846-7297847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375527700	chr18:7297847-7297848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529733607	chr18:7297848-7297849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549214142	chr18:7297854-7297855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559902110	chr18:7297886-7297887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75624434	chr18:7297914-7297915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183857710	chr18:7297935-7297936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4798555	chr18:7297955-7297956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149126343	chr18:7297970-7297971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143243422	chr18:7297987-7297988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187050060	chr18:7298044-7298045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556897298	chr18:7298079-7298080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373141492	chr18:7298190-7298191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377252120	chr18:7298191-7298192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397689699	chr18:7298193-7298194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79976201	chr18:7298194-7298195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536745387	chr18:7298224-7298225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370266814	chr18:7298288-7298289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577213277	chr18:7298296-7298297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538427912	chr18:7298380-7298381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191101121	chr18:7298405-7298406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148316257	chr18:7298412-7298413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528190995	chr18:7298433-7298434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184641120	chr18:7298448-7298449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554143148	chr18:7298472-7298473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute promyelocytic leukemia	19109227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7289200-7303800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:7291200-7299400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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