Variant report

Variant	nsv4322
Chromosome Location	chr4:45235596-45280072
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	chr4:45252670..45254884-chr4:45328332..45330157,2	K562	blood:
2	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:

Extended variants
information (count: 1069 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549086716	chr4:45235606-45235607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572687185	chr4:45235607-45235608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546494202	chr4:45235676-45235677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112081597	chr4:45235705-45235706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531737970	chr4:45235706-45235707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139426462	chr4:45235707-45235708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7671291	chr4:45235743-45235744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529384630	chr4:45235754-45235755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144074359	chr4:45235764-45235765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566643665	chr4:45235780-45235781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547333713	chr4:45235781-45235782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62409648	chr4:45235784-45235785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9998911	chr4:45235806-45235807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570371731	chr4:45235825-45235826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537486850	chr4:45235827-45235828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555735857	chr4:45235836-45235837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs348544	chr4:45235875-45235876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191567468	chr4:45235876-45235877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373369730	chr4:45235922-45235923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553549556	chr4:45235934-45235935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376543782	chr4:45235943-45235944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113062179	chr4:45235949-45235950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184051104	chr4:45235958-45235959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564781263	chr4:45235974-45235975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576802261	chr4:45236046-45236047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532404560	chr4:45236119-45236120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189110958	chr4:45236153-45236154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1156837	chr4:45236209-45236210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369567999	chr4:45236277-45236278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114940836	chr4:45236353-45236354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547886325	chr4:45236356-45236357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550999261	chr4:45236357-45236358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs348543	chr4:45236377-45236378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139942920	chr4:45236464-45236465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551943291	chr4:45236468-45236469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116255242	chr4:45236488-45236489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115498717	chr4:45236500-45236501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181074455	chr4:45236528-45236529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529514836	chr4:45236536-45236537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73813035	chr4:45236547-45236548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185516122	chr4:45236580-45236581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190467955	chr4:45236584-45236585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554619417	chr4:45236600-45236601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567143098	chr4:45236601-45236602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2860044	chr4:45236612-45236613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs151072786	chr4:45236624-45236625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370624301	chr4:45236638-45236639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576838525	chr4:45236644-45236645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78023989	chr4:45236651-45236652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556061663	chr4:45236705-45236706	Weak transcription	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45235000-45236800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:45236800-45237600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:45237600-45243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:45243800-45244200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:45243800-45244200	Enhancers	Adipose Nuclei	Adipose
6	chr4:45257200-45269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:45272800-45275000	Weak transcription	Psoas Muscle	Psoas
8	chr4:45279200-45279600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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