Variant report

Variant	nsv1009160
Chromosome Location	chr4:60269677-60320021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 835 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187530250	chr4:60278423-60278424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs531813850	chr4:60278435-60278436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150305807	chr4:60278475-60278476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573468773	chr4:60278479-60278480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571860724	chr4:60278483-60278484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7698051	chr4:60278484-60278485	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs547476347	chr4:60278513-60278514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566111518	chr4:60278522-60278523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs137895040	chr4:60278527-60278528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116193314	chr4:60278549-60278550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114983535	chr4:60278560-60278561	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs386674912	chr4:60278564-60278565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs17089656	chr4:60278565-60278566	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs140744124	chr4:60278566-60278567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192004564	chr4:60278570-60278571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559880810	chr4:60278608-60278609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1397814	chr4:60278609-60278610	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs530115868	chr4:60278643-60278644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs79603415	chr4:60278650-60278651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560673407	chr4:60278655-60278656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs531758129	chr4:60278658-60278659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549972601	chr4:60278666-60278667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184246094	chr4:60278707-60278708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1397813	chr4:60278718-60278719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548109383	chr4:60278732-60278733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs1397812	chr4:60278734-60278735	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569566699	chr4:60278788-60278789	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536666087	chr4:60278789-60278790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188570192	chr4:60278797-60278798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539757100	chr4:60285409-60285410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184765614	chr4:60285414-60285415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112110276	chr4:60285416-60285417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111629858	chr4:60285421-60285422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115909697	chr4:60285429-60285430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557700257	chr4:60285468-60285469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190532294	chr4:60285487-60285488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576360483	chr4:60285488-60285489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116305737	chr4:60285502-60285503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375322781	chr4:60285506-60285507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs573175146	chr4:60285516-60285517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115360577	chr4:60285518-60285519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs555053592	chr4:60285529-60285530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs192964493	chr4:60285535-60285536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs537510667	chr4:60285541-60285542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562610558	chr4:60285560-60285561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143268509	chr4:60285566-60285567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146184063	chr4:60285577-60285578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368415710	chr4:60285588-60285589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371285408	chr4:60285591-60285592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527960545	chr4:60285604-60285605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60278400-60278800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:60285400-60286000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:60285400-60286200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:60286200-60293000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:60300600-60301000	Active TSS	A549	lung
6	chr4:60315000-60315600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:60315400-60315600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:60315600-60317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:60317800-60318000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:60318000-60323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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