Variant report

Variant	esv2763380
Chromosome Location	chr4:92716112-92775963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:92733503..92735821-chr4:92736564..92739014,2	K562	blood:
2	chr4:92763071..92764755-chr4:92766152..92768101,2	MCF-7	breast:
3	chr4:92733503..92735821-chr4:92736564..92739014,2	K562	blood:
4	chr4:92763071..92764755-chr4:92766152..92768101,2	MCF-7	breast:
5	chr2:39076189..39078927-chr4:92754563..92756152,2	MCF-7	breast:

Extended variants
information (count: 536 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573586940	chr4:92743800-92743801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542331582	chr4:92743818-92743819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562261227	chr4:92743855-92743856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148403503	chr4:92743865-92743866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551588627	chr4:92743889-92743890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186407262	chr4:92743899-92743900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150599197	chr4:92743902-92743903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548079488	chr4:92743903-92743904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369245250	chr4:92743922-92743923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536671472	chr4:92743929-92743930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114782136	chr4:92743946-92743947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570196587	chr4:92743948-92743949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538014597	chr4:92743963-92743964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139619664	chr4:92744003-92744004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527984048	chr4:92744008-92744009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371196087	chr4:92744020-92744021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533802807	chr4:92744064-92744065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190860251	chr4:92744088-92744089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554058056	chr4:92744108-92744109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573523591	chr4:92744113-92744114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143415053	chr4:92744119-92744120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182356155	chr4:92744189-92744190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549128141	chr4:92744195-92744196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146730791	chr4:92744208-92744209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565095167	chr4:92744226-92744227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13138704	chr4:92744234-92744235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13114579	chr4:92744240-92744241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527889525	chr4:92744244-92744245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541333860	chr4:92744269-92744270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561641496	chr4:92744286-92744287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13119898	chr4:92744303-92744304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13144285	chr4:92744304-92744305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530025794	chr4:92744326-92744327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550224567	chr4:92744342-92744343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185098199	chr4:92744362-92744363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377649465	chr4:92744402-92744403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190627400	chr4:92744413-92744414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571950897	chr4:92744438-92744439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113865295	chr4:92744474-92744475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370416970	chr4:92744484-92744485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183342560	chr4:92744485-92744486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553769125	chr4:92744578-92744579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374034133	chr4:92744586-92744587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28419264	chr4:92744592-92744593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535843214	chr4:92744610-92744611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555780978	chr4:92744621-92744622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143699390	chr4:92744624-92744625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555880012	chr4:92744688-92744689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113727202	chr4:92744755-92744756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572511651	chr4:92744773-92744774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92743800-92745400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:92745400-92747000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:92747000-92751800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:92747200-92748000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:92747200-92748000	Enhancers	Hela-S3	cervix
6	chr4:92747200-92748000	Enhancers	HMEC	breast
7	chr4:92747200-92748000	Enhancers	NHEK	skin
8	chr4:92747200-92748200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:92747800-92748000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr4:92748000-92751800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:92748000-92752000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:92751800-92752200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:92751800-92752200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:92751800-92752400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:92751800-92752600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:92752000-92752600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:92753200-92753400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:92754000-92755600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr4:92759000-92759200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:92759000-92759400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:92759000-92759400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:92759000-92759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:92759000-92759800	Enhancers	Liver	Liver
24	chr4:92759000-92760200	Enhancers	Hela-S3	cervix
25	chr4:92759400-92759600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:92759600-92760200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:92760200-92761600	Weak transcription	Hela-S3	cervix
28	chr4:92761600-92762000	Enhancers	Hela-S3	cervix

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