Variant report

Variant	esv3358540
Chromosome Location	chr18:40026748-40028962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551478900	chr18:40026789-40026790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181071884	chr18:40026792-40026793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145285545	chr18:40026852-40026853	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549619109	chr18:40026853-40026854	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554627086	chr18:40026887-40026888	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571411589	chr18:40026893-40026894	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs5824428	chr18:40026912-40026913	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs33921145	chr18:40026913-40026914	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577727786	chr18:40026968-40026969	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186105815	chr18:40026973-40026974	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188133683	chr18:40026980-40026981	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181336735	chr18:40026986-40026987	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185603545	chr18:40027013-40027014	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369058496	chr18:40027015-40027016	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141277721	chr18:40027046-40027047	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572230448	chr18:40027122-40027123	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373444853	chr18:40027134-40027135	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190736939	chr18:40027135-40027136	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183589102	chr18:40027183-40027184	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532668234	chr18:40027184-40027185	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544544132	chr18:40027211-40027212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs148598992	chr18:40027262-40027263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562615643	chr18:40027314-40027315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs117292810	chr18:40027330-40027331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs544692583	chr18:40027332-40027333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531867295	chr18:40027350-40027351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544781969	chr18:40027369-40027370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187377696	chr18:40027406-40027407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562090025	chr18:40027416-40027417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs527384521	chr18:40027533-40027534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549058141	chr18:40027554-40027555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192268570	chr18:40027594-40027595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531808858	chr18:40027625-40027626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550484835	chr18:40027633-40027634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144798117	chr18:40027681-40027682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532813862	chr18:40027696-40027697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183645486	chr18:40027727-40027728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114421031	chr18:40027828-40027829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536391037	chr18:40027852-40027853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554643707	chr18:40027854-40027855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567154752	chr18:40027913-40027914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537626037	chr18:40027922-40027923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556286547	chr18:40027945-40027946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577878867	chr18:40027995-40027996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377147109	chr18:40028017-40028018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545240053	chr18:40028023-40028024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138641711	chr18:40028029-40028030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572061181	chr18:40028078-40028079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546226604	chr18:40028119-40028120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377558064	chr18:40028148-40028149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40022400-40027200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:40023600-40027200	Enhancers	HepG2	liver
3	chr18:40024000-40026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:40024000-40026800	Enhancers	NHDF-Ad	bronchial
5	chr18:40024000-40027000	Enhancers	HSMMtube	muscle
6	chr18:40025600-40026800	Enhancers	HSMM	muscle
7	chr18:40025800-40027000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:40025800-40027000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:40026000-40026800	Enhancers	Liver	Liver
10	chr18:40026200-40040000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:40026400-40026800	Enhancers	Fetal Kidney	kidney
12	chr18:40026600-40026800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr18:40026600-40026800	Enhancers	Osteobl	bone
14	chr18:40026800-40027000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:40026800-40027400	Weak transcription	Liver	Liver
16	chr18:40026800-40028400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:40027200-40027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:40027400-40027600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:40027600-40027800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
20	chr18:40027800-40028200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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