Variant report

Variant	nsv593577
Chromosome Location	chr4:7443285-7443955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73086351	chr4:7443299-7443300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371033518	chr4:7443336-7443337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75606651	chr4:7443377-7443378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555298056	chr4:7443388-7443389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200480651	chr4:7443402-7443403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183768681	chr4:7443404-7443405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74201436	chr4:7443432-7443433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577115119	chr4:7443440-7443441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374955146	chr4:7443464-7443465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534894037	chr4:7443468-7443469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189697521	chr4:7443481-7443482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544763703	chr4:7443482-7443483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560324981	chr4:7443483-7443484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200688942	chr4:7443488-7443489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572494063	chr4:7443537-7443538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571908708	chr4:7443630-7443631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542557083	chr4:7443743-7443744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560857889	chr4:7443744-7443745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181235556	chr4:7443874-7443875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184639789	chr4:7443920-7443921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531456590	chr4:7443927-7443928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549786322	chr4:7443928-7443929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
2	chr4:7438200-7447000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:7442600-7443400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7443000-7443400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:7443000-7443400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7443200-7443400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:7443200-7444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:7443400-7444400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:7443400-7444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7443400-7444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:7443400-7444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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