Variant report

Variant	nsv878806
Chromosome Location	chr4:30432141-30508931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 690 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16883507	chr4:30432141-30432142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530575880	chr4:30432151-30432152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151248487	chr4:30432175-30432176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12186213	chr4:30432188-30432189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145045189	chr4:30432224-30432225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534895151	chr4:30432302-30432303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57939657	chr4:30432317-30432318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568077800	chr4:30432324-30432325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535465583	chr4:30432329-30432330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77988567	chr4:30432354-30432355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575689172	chr4:30432366-30432367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80096968	chr4:30432384-30432385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398092266	chr4:30432386-30432387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149111988	chr4:30432398-30432399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192768848	chr4:30432427-30432428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573386093	chr4:30432446-30432447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58290330	chr4:30432492-30432493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7672498	chr4:30432497-30432498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574446945	chr4:30432526-30432527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537489092	chr4:30432556-30432557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73109910	chr4:30432568-30432569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563323141	chr4:30432573-30432574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530610455	chr4:30432580-30432581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145737001	chr4:30432605-30432606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138676620	chr4:30432620-30432621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528288984	chr4:30432635-30432636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139384405	chr4:30432650-30432651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546447536	chr4:30432679-30432680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568017126	chr4:30432687-30432688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529197511	chr4:30432728-30432729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550552691	chr4:30432741-30432742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569192945	chr4:30432770-30432771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74429724	chr4:30432776-30432777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185239025	chr4:30432779-30432780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577646081	chr4:30432786-30432787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111539658	chr4:30432809-30432810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556051434	chr4:30432820-30432821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574385980	chr4:30432823-30432824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146951248	chr4:30432865-30432866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546541945	chr4:30432878-30432879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556891515	chr4:30432879-30432880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188550489	chr4:30432962-30432963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148020293	chr4:30432968-30432969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192348368	chr4:30432987-30432988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141941521	chr4:30432992-30432993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540035352	chr4:30433001-30433002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184983341	chr4:30433039-30433040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529135967	chr4:30433043-30433044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573367514	chr4:30433048-30433049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188186936	chr4:30433068-30433069	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30431000-30433200	Enhancers	HUVEC	blood vessel
2	chr4:30431400-30432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:30431400-30432600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:30431600-30432200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:30431800-30432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:30432000-30432400	Enhancers	NH-A	brain
7	chr4:30443000-30443200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:30444400-30445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:30444400-30445400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:30444400-30445600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:30444400-30445600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:30444600-30445200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:30444600-30445400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:30444600-30445600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:30444600-30445600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:30444800-30445200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:30444800-30445400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:30444800-30445400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:30444800-30445400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:30444800-30445400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:30444800-30445600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:30445000-30445400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:30445000-30445400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr4:30445000-30445400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:30445000-30445400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:30445200-30445400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:30445400-30445600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:30451800-30452400	Enhancers	Fetal Lung	lung
29	chr4:30458200-30458600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:30460600-30460800	Enhancers	GM12878-XiMat	blood
31	chr4:30460800-30461800	Weak transcription	GM12878-XiMat	blood
32	chr4:30461800-30462000	Enhancers	GM12878-XiMat	blood
33	chr4:30461800-30463000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:30462000-30462600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:30462000-30463000	Flanking Active TSS	GM12878-XiMat	blood
36	chr4:30462000-30463600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:30462000-30463800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:30462000-30464200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:30462200-30462400	Enhancers	Fetal Lung	lung
40	chr4:30462200-30462800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:30462200-30462800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:30462200-30463000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:30462200-30463200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:30462200-30464000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:30462400-30463200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:30462400-30463600	Weak transcription	Fetal Lung	lung
47	chr4:30462600-30463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:30462800-30463000	Enhancers	Hela-S3	cervix
49	chr4:30463000-30463600	Enhancers	GM12878-XiMat	blood
50	chr4:30463600-30463800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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