Variant report

Variant	nsv822557
Chromosome Location	chr4:47619684-47620443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4464539	chr4:47619731-47619732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541289856	chr4:47619736-47619737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190049193	chr4:47619802-47619803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17601068	chr4:47619803-47619804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4464540	chr4:47619875-47619876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563379846	chr4:47619892-47619893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5026274	chr4:47619936-47619937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574912552	chr4:47619972-47619973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139818414	chr4:47619974-47619975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370026220	chr4:47619991-47619992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59286293	chr4:47619992-47619993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548983692	chr4:47619999-47620000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375525062	chr4:47620038-47620039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16860451	chr4:47620039-47620040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370619225	chr4:47620055-47620056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529362978	chr4:47620074-47620075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181749906	chr4:47620078-47620079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138143412	chr4:47620089-47620090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549199331	chr4:47620090-47620091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186497181	chr4:47620167-47620168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34048353	chr4:47620196-47620197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537105451	chr4:47620203-47620204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555743202	chr4:47620241-47620242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56402433	chr4:47620324-47620325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541374041	chr4:47620332-47620333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112420250	chr4:47620349-47620350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57190153	chr4:47620361-47620362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201305513	chr4:47620362-47620363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4694859	chr4:47620363-47620364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4694860	chr4:47620435-47620436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577848408	chr4:47620441-47620442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	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
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Bipolar disorder	19214233	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47601800-47641000	Weak transcription	Fetal Heart	heart
2	chr4:47605600-47627000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:47607400-47630200	Weak transcription	Placenta	Placenta
4	chr4:47614800-47625600	Weak transcription	Aorta	Aorta
5	chr4:47615200-47624800	Weak transcription	HSMM	muscle
6	chr4:47618000-47625200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:47618000-47641400	Weak transcription	Left Ventricle	heart
8	chr4:47618600-47645400	Weak transcription	Right Ventricle	heart

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