Variant report

Variant	nsv1006397
Chromosome Location	chr4:60263029-60311162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:60276368..60277207-chr6:157803055..157803704,2	MCF-7	breast:
2	chr4:60301296..60303463-chr4:60317465..60318968,2	K562	blood:

Extended variants
information (count: 627 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564208665	chr4:60266013-60266014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138033914	chr4:60266018-60266019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540852995	chr4:60266020-60266021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142525074	chr4:60266058-60266059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372320313	chr4:60266063-60266064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116093838	chr4:60266084-60266085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192235957	chr4:60266096-60266097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376420388	chr4:60266107-60266108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551569522	chr4:60266113-60266114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566650519	chr4:60266133-60266134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62305701	chr4:60266134-60266135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112670352	chr4:60266147-60266148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184439591	chr4:60266177-60266178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567974244	chr4:60266247-60266248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570459751	chr4:60266254-60266255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371746668	chr4:60266258-60266259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548005292	chr4:60266289-60266290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17089646	chr4:60266310-60266311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568749025	chr4:60266327-60266328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566161874	chr4:60266361-60266362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539451140	chr4:60266373-60266374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557860990	chr4:60266376-60266377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572992448	chr4:60266377-60266378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187530250	chr4:60278423-60278424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531813850	chr4:60278435-60278436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150305807	chr4:60278475-60278476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573468773	chr4:60278479-60278480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571860724	chr4:60278483-60278484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7698051	chr4:60278484-60278485	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs547476347	chr4:60278513-60278514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566111518	chr4:60278522-60278523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs137895040	chr4:60278527-60278528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs116193314	chr4:60278549-60278550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114983535	chr4:60278560-60278561	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs386674912	chr4:60278564-60278565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs17089656	chr4:60278565-60278566	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs140744124	chr4:60278566-60278567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192004564	chr4:60278570-60278571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559880810	chr4:60278608-60278609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1397814	chr4:60278609-60278610	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs530115868	chr4:60278643-60278644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs79603415	chr4:60278650-60278651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560673407	chr4:60278655-60278656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs531758129	chr4:60278658-60278659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549972601	chr4:60278666-60278667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs184246094	chr4:60278707-60278708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs1397813	chr4:60278718-60278719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548109383	chr4:60278732-60278733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1397812	chr4:60278734-60278735	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569566699	chr4:60278788-60278789	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60266000-60266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:60278400-60278800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:60285400-60286000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:60285400-60286200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:60286200-60293000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:60300600-60301000	Active TSS	A549	lung

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