Variant report

Variant	nsv10489
Chromosome Location	chr4:49161172-49162620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376388184	chr4:49161180-49161181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10433734	chr4:49161181-49161182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534914530	chr4:49161191-49161192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5021108	chr4:49161199-49161200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377007570	chr4:49161211-49161212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5021107	chr4:49161245-49161246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4695471	chr4:49161252-49161253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553102854	chr4:49161257-49161258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59753014	chr4:49161258-49161259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59647382	chr4:49161298-49161299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143165298	chr4:49161300-49161301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111919293	chr4:49161303-49161304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4346623	chr4:49161308-49161309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368212775	chr4:49161319-49161320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4346624	chr4:49161321-49161322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147073386	chr4:49161331-49161332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138687791	chr4:49161333-49161334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139730362	chr4:49161334-49161335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372071767	chr4:49161341-49161342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57763198	chr4:49161347-49161348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571503804	chr4:49161353-49161354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538788965	chr4:49161354-49161355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372549658	chr4:49161359-49161360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199684993	chr4:49161363-49161364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6828357	chr4:49161364-49161365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9884273	chr4:49161385-49161386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143389559	chr4:49161402-49161403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76517706	chr4:49161408-49161409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557017423	chr4:49161411-49161412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79848551	chr4:49161412-49161413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76329701	chr4:49161413-49161414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60401063	chr4:49161415-49161416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374071290	chr4:49161418-49161419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75331757	chr4:49161434-49161435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370854895	chr4:49161450-49161451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75928580	chr4:49161454-49161455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575575917	chr4:49161455-49161456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542977459	chr4:49161467-49161468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144026349	chr4:49161468-49161469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554582004	chr4:49161470-49161471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201558723	chr4:49161499-49161500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199837099	chr4:49161501-49161502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540432781	chr4:49161514-49161515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4235162	chr4:49161534-49161535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9884736	chr4:49161540-49161541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4694929	chr4:49161548-49161549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367586314	chr4:49161559-49161560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6827351	chr4:49161613-49161614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4395471	chr4:49161614-49161615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4126656	chr4:49161615-49161616	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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	22183965	CNVD
Cancer	22183965	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49158600-49163000	Weak transcription	K562	blood
2	chr4:49158600-49163400	Weak transcription	A549	lung
3	chr4:49158600-49163400	Weak transcription	NH-A	brain
4	chr4:49162000-49162200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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