Variant report

Variant	nsv1058002
Chromosome Location	chr18:40056557-40076785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 355 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574325051	chr18:40056565-40056566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531579071	chr18:40056574-40056575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544570279	chr18:40056583-40056584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563157333	chr18:40056593-40056594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577619868	chr18:40056623-40056624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544973923	chr18:40056638-40056639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183085622	chr18:40056681-40056682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527763055	chr18:40056711-40056712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374415131	chr18:40056782-40056783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386802705	chr18:40056802-40056803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145945197	chr18:40056803-40056804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529226448	chr18:40056819-40056820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74950251	chr18:40056875-40056876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7243805	chr18:40056882-40056883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539459059	chr18:40056910-40056911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186420974	chr18:40056916-40056917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191723251	chr18:40056931-40056932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79076286	chr18:40056932-40056933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555968722	chr18:40056945-40056946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183626732	chr18:40056999-40057000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138545769	chr18:40057015-40057016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369229578	chr18:40057045-40057046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188077116	chr18:40057104-40057105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556602477	chr18:40057121-40057122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149239753	chr18:40057167-40057168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559681314	chr18:40057176-40057177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560092639	chr18:40057208-40057209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533476088	chr18:40057239-40057240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16976167	chr18:40057240-40057241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542744754	chr18:40057267-40057268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561391832	chr18:40057272-40057273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551853384	chr18:40057278-40057279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529079497	chr18:40057300-40057301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4044960	chr18:40057316-40057317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112421122	chr18:40057319-40057320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199610436	chr18:40057322-40057323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76556288	chr18:40057323-40057324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550721132	chr18:40057325-40057326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4044955	chr18:40057326-40057327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4044956	chr18:40057327-40057328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4044957	chr18:40057329-40057330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562784540	chr18:40057445-40057446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533247112	chr18:40057502-40057503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72907052	chr18:40057511-40057512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183266807	chr18:40057516-40057517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566469059	chr18:40057651-40057652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11872433	chr18:40057666-40057667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548810312	chr18:40057669-40057670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553899219	chr18:40057717-40057718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144515440	chr18:40057725-40057726	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	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40055400-40056800	Weak transcription	Fetal Kidney	kidney
2	chr18:40056800-40057000	Enhancers	Fetal Kidney	kidney
3	chr18:40057000-40057400	Weak transcription	Fetal Kidney	kidney
4	chr18:40057400-40057600	Enhancers	Fetal Kidney	kidney
5	chr18:40057600-40060800	Weak transcription	Fetal Kidney	kidney
6	chr18:40060800-40061000	Enhancers	Fetal Kidney	kidney
7	chr18:40062200-40063400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:40062800-40063200	Enhancers	Adipose Nuclei	Adipose
9	chr18:40067400-40068200	Enhancers	Colon Smooth Muscle	Colon
10	chr18:40072600-40073200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:40073200-40073600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:40073600-40075200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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