Variant report

Variant	nsv980424
Chromosome Location	chr4:60543627-60561102
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	chr4:60543813..60546033-chr4:60553313..60556008,2	K562	blood:
2	chr4:60543813..60546033-chr4:60553313..60556008,2	K562	blood:

Extended variants
information (count: 723 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:723 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537517528	chr4:60543647-60543648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549491548	chr4:60543663-60543664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191915392	chr4:60543679-60543680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182895265	chr4:60543680-60543681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77119343	chr4:60543684-60543685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544702554	chr4:60543711-60543712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73204901	chr4:60543789-60543790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536970448	chr4:60543800-60543801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201917789	chr4:60543814-60543815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147620967	chr4:60543815-60543816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375703532	chr4:60543817-60543818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187525961	chr4:60543820-60543821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367968184	chr4:60543854-60543855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151148012	chr4:60543889-60543890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563247074	chr4:60543902-60543903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11294870	chr4:60543927-60543928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17089746	chr4:60543933-60543934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559134678	chr4:60544049-60544050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531408865	chr4:60544072-60544073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548146330	chr4:60544090-60544091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561007798	chr4:60544111-60544112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544828828	chr4:60544116-60544117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150272457	chr4:60544129-60544130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527555993	chr4:60544157-60544158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542928335	chr4:60544204-60544205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75641942	chr4:60544221-60544222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547633499	chr4:60544225-60544226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147956690	chr4:60544234-60544235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571054105	chr4:60544259-60544260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532245972	chr4:60544313-60544314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141795115	chr4:60544321-60544322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147084657	chr4:60544359-60544360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193243349	chr4:60544367-60544368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185694930	chr4:60544406-60544407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555279185	chr4:60544425-60544426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138418505	chr4:60544430-60544431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537491025	chr4:60544444-60544445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558994847	chr4:60544462-60544463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577371563	chr4:60544465-60544466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72633591	chr4:60544474-60544475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12648765	chr4:60544511-60544512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189375101	chr4:60544516-60544517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149594523	chr4:60544522-60544523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542539971	chr4:60544557-60544558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560886538	chr4:60544570-60544571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373598995	chr4:60544574-60544575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542976702	chr4:60544609-60544610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564557288	chr4:60544614-60544615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539716924	chr4:60544669-60544670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77738520	chr4:60544670-60544671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60543400-60550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:60549400-60550400	Enhancers	Liver	Liver
3	chr4:60550400-60550800	Weak transcription	Liver	Liver
4	chr4:60550800-60552000	Enhancers	Liver	Liver
5	chr4:60552000-60554600	Weak transcription	Liver	Liver
6	chr4:60554600-60555600	Enhancers	Liver	Liver
7	chr4:60555600-60560600	Weak transcription	Liver	Liver
8	chr4:60560600-60562400	Enhancers	Liver	Liver

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