Variant report

Variant	esv2760914
Chromosome Location	chr4:19986986-20001129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 323 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4627860	chr4:19986986-19986987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569362806	chr4:19987040-19987041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530769746	chr4:19987049-19987050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185900016	chr4:19987063-19987064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573829835	chr4:19987091-19987092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370460646	chr4:19987092-19987093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192037336	chr4:19987123-19987124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201670669	chr4:19987171-19987172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575488139	chr4:19987182-19987183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534893225	chr4:19987201-19987202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377009715	chr4:19987233-19987234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141647127	chr4:19987249-19987250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542585360	chr4:19987252-19987253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75868743	chr4:19987283-19987284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557684263	chr4:19987319-19987320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556686446	chr4:19987332-19987333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574948529	chr4:19987335-19987336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542821408	chr4:19987341-19987342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541270212	chr4:19987508-19987509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572855663	chr4:19987516-19987517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146235530	chr4:19987528-19987529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573480059	chr4:19987548-19987549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540949582	chr4:19987557-19987558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565421125	chr4:19987562-19987563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183924398	chr4:19987590-19987591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531446813	chr4:19987607-19987608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369622563	chr4:19987608-19987609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562971675	chr4:19987609-19987610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565045033	chr4:19987657-19987658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527745058	chr4:19987687-19987688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368729699	chr4:19987747-19987748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372043172	chr4:19987753-19987754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561168321	chr4:19987767-19987768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139323743	chr4:19987803-19987804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374797973	chr4:19987806-19987807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546914209	chr4:19987828-19987829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12643020	chr4:19987869-19987870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116405579	chr4:19987890-19987891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550119086	chr4:19987893-19987894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568626300	chr4:19987901-19987902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79837796	chr4:19987905-19987906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187606722	chr4:19987985-19987986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149940892	chr4:19987993-19987994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573416031	chr4:19988026-19988027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534119423	chr4:19988047-19988048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72476398	chr4:19988102-19988103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398063332	chr4:19988114-19988115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559247815	chr4:19988118-19988119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73240171	chr4:19988130-19988131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35842005	chr4:19988153-19988154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19984200-19989000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:19984400-19989000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:19985000-19989000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:19985400-19989200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:19985600-19989200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:19985800-19989000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:19985800-19989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:19985800-19989000	Weak transcription	HUVEC	blood vessel
9	chr4:19985800-19989000	Weak transcription	NH-A	brain
10	chr4:19985800-19989000	Weak transcription	NHDF-Ad	bronchial
11	chr4:19985800-19989400	Weak transcription	Osteobl	bone
12	chr4:19988800-19989200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:19989000-19989400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:19989000-19989400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:19989000-19989400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:19989000-19989400	Enhancers	NHLF	lung
17	chr4:19989000-19989600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:19989000-19989800	Enhancers	NH-A	brain
19	chr4:19989000-19990000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:19989000-19990000	Enhancers	HUVEC	blood vessel
21	chr4:19989000-19990400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:19989000-19990600	Enhancers	NHDF-Ad	bronchial
23	chr4:19989200-19989800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:19989200-19990000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:19989200-19990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:19989400-19989800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:19989400-19990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:19989400-19990200	Enhancers	Osteobl	bone
29	chr4:19989400-19990400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:19989600-19989800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:19989600-19990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:19989800-19994400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:19990000-19994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:19990000-19994400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:19990200-19990400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:19990200-19990600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:19990200-19990800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:19990200-19994400	Weak transcription	Osteobl	bone
39	chr4:19990400-19990600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:19990400-19994400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:19993600-19994000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:19993800-19994200	Enhancers	Dnd41	blood
43	chr4:19994000-19995000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:19994200-19995200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:19994200-19995200	Flanking Active TSS	Dnd41	blood
46	chr4:19994200-19995600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:19994200-19996000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr4:19994400-19994600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:19994400-19994800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:19994400-19995000	Enhancers	Osteobl	bone

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