Variant report

Variant	esv3410603
Chromosome Location	chr18:7295952-7299050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565687736	chr18:7295955-7295956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528054600	chr18:7295970-7295971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556595564	chr18:7295992-7295993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551206553	chr18:7295998-7295999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571296772	chr18:7296030-7296031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576601440	chr18:7296045-7296046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28862359	chr18:7296047-7296048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181154357	chr18:7296048-7296049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117666860	chr18:7296058-7296059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146180060	chr18:7296065-7296066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78241953	chr18:7296100-7296101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148414941	chr18:7296117-7296118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142511502	chr18:7296213-7296214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555602606	chr18:7296282-7296283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572126279	chr18:7296305-7296306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565462378	chr18:7296337-7296338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533871478	chr18:7296354-7296355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74754649	chr18:7296379-7296380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557998753	chr18:7296432-7296433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578038182	chr18:7296489-7296490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543294557	chr18:7296564-7296565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139522335	chr18:7296570-7296571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185751346	chr18:7296572-7296573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542958002	chr18:7296637-7296638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369198432	chr18:7296640-7296641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559658380	chr18:7296735-7296736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528099245	chr18:7296738-7296739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551339602	chr18:7296753-7296754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541743824	chr18:7296767-7296768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571293751	chr18:7296779-7296780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530624121	chr18:7296809-7296810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144377922	chr18:7296845-7296846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189681046	chr18:7296853-7296854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2111633	chr18:7296865-7296866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs147832197	chr18:7296889-7296890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556695647	chr18:7296900-7296901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34306889	chr18:7296918-7296919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141425880	chr18:7296922-7296923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182856148	chr18:7296932-7296933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558124804	chr18:7296989-7296990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578072900	chr18:7296993-7296994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188770553	chr18:7297024-7297025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557455197	chr18:7297034-7297035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369256742	chr18:7297046-7297047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542818949	chr18:7297076-7297077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570023116	chr18:7297090-7297091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372549351	chr18:7297092-7297093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368571919	chr18:7297102-7297103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559715260	chr18:7297107-7297108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192477156	chr18:7297121-7297122	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:3 , 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
3	chr18:7295400-7296000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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