Variant report

Variant	nsv594106
Chromosome Location	chr4:45224500-45283866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:
2	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:
3	chr4:45252670..45254884-chr4:45328332..45330157,2	K562	blood:

Extended variants
information (count: 1198 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1198 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28502572	chr4:45227010-45227011	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28587540	chr4:45227085-45227086	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192533788	chr4:45227091-45227092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28663457	chr4:45227093-45227094	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538036766	chr4:45227111-45227112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541527246	chr4:45227112-45227113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537053889	chr4:45227118-45227119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs28665095	chr4:45227148-45227149	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs28370366	chr4:45227158-45227159	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375645290	chr4:45227183-45227184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553633642	chr4:45227185-45227186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183354883	chr4:45227201-45227202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538821626	chr4:45227202-45227203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557654317	chr4:45227232-45227233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575798033	chr4:45227241-45227242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186732947	chr4:45227330-45227331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554533629	chr4:45227335-45227336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539647128	chr4:45227346-45227347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6831053	chr4:45227350-45227351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559317112	chr4:45227360-45227361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533176161	chr4:45227373-45227374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191539792	chr4:45227413-45227414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74943102	chr4:45227422-45227423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563608594	chr4:45227435-45227436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6832707	chr4:45227439-45227440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114801925	chr4:45227538-45227539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567251264	chr4:45227568-45227569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184906104	chr4:45227599-45227600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546732058	chr4:45227606-45227607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571224931	chr4:45227621-45227622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370351767	chr4:45227658-45227659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114152873	chr4:45227675-45227676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563987782	chr4:45227698-45227699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs348553	chr4:45227699-45227700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10023545	chr4:45227746-45227747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536545620	chr4:45227747-45227748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193264417	chr4:45227778-45227779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs348552	chr4:45227797-45227798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540207068	chr4:45227837-45227838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559013611	chr4:45227841-45227842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559786077	chr4:45227847-45227848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184978849	chr4:45227887-45227888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190315037	chr4:45227899-45227900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563338380	chr4:45227958-45227959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181138571	chr4:45227959-45227960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373317919	chr4:45234472-45234473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548623071	chr4:45234483-45234484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567108535	chr4:45234487-45234488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10005643	chr4:45234515-45234516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182745611	chr4:45234521-45234522	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45227000-45227200	ZNF genes & repeats	Aorta	Aorta
2	chr4:45227200-45227800	Weak transcription	Aorta	Aorta
3	chr4:45227800-45228000	Enhancers	Aorta	Aorta
4	chr4:45234400-45234800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:45234400-45234800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:45234400-45235000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:45235000-45236800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:45236800-45237600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:45237600-45243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:45243800-45244200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:45243800-45244200	Enhancers	Adipose Nuclei	Adipose
12	chr4:45257200-45269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:45272800-45275000	Weak transcription	Psoas Muscle	Psoas
14	chr4:45279200-45279600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:45281000-45281400	Enhancers	Stomach Mucosa	stomach
16	chr4:45281400-45281800	Weak transcription	Stomach Mucosa	stomach
17	chr4:45281800-45282400	Enhancers	Stomach Mucosa	stomach

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