Variant report

Variant	nsv4285
Chromosome Location	chr4:30815642-30838784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:30821360..30824099-chr4:30824392..30825995,2	MCF-7	breast:
2	chr4:30821360..30824099-chr4:30824392..30825995,2	MCF-7	breast:
3	chr11:133970057..133970557-chr4:30821917..30822646,2	HCT-116	colon:

Extended variants
information (count: 928 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576606162	chr4:30815657-30815658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553856970	chr4:30815675-30815676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552443708	chr4:30815719-30815720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369494574	chr4:30815728-30815729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192368578	chr4:30815742-30815743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146783371	chr4:30815783-30815784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185748957	chr4:30815792-30815793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189431392	chr4:30815839-30815840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373452334	chr4:30815873-30815874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547745317	chr4:30815880-30815881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560109949	chr4:30815892-30815893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192469107	chr4:30815904-30815905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372156777	chr4:30815929-30815930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139548086	chr4:30815961-30815962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567297287	chr4:30815973-30815974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376441628	chr4:30816003-30816004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144214793	chr4:30816029-30816030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145230439	chr4:30816041-30816042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538570107	chr4:30816097-30816098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73213198	chr4:30816107-30816108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572415818	chr4:30816109-30816110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536208899	chr4:30816123-30816124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554937703	chr4:30816130-30816131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149167766	chr4:30816131-30816132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542903284	chr4:30816133-30816134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562890519	chr4:30816135-30816136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143526183	chr4:30816146-30816147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577478982	chr4:30816162-30816163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541720614	chr4:30816186-30816187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571971951	chr4:30816280-30816281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576331361	chr4:30816465-30816466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184799005	chr4:30816486-30816487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372496344	chr4:30816523-30816524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548744994	chr4:30816542-30816543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560533142	chr4:30816549-30816550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574558684	chr4:30816550-30816551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545237482	chr4:30816560-30816561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150996273	chr4:30816646-30816647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571126821	chr4:30816662-30816663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142264889	chr4:30816692-30816693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547674075	chr4:30816705-30816706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565874027	chr4:30816785-30816786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536530366	chr4:30816786-30816787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554690161	chr4:30816787-30816788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570036172	chr4:30816788-30816789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537557983	chr4:30816814-30816815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559052027	chr4:30816909-30816910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188426149	chr4:30816927-30816928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7356527	chr4:30816951-30816952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375601513	chr4:30816952-30816953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30795800-30824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:30803800-30817200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:30804800-30819400	Weak transcription	Aorta	Aorta
4	chr4:30811400-30819000	Weak transcription	Fetal Heart	heart
5	chr4:30811600-30817200	Weak transcription	Fetal Lung	lung
6	chr4:30813800-30835800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:30816800-30817200	Enhancers	Right Ventricle	heart
8	chr4:30817000-30817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:30817000-30817600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:30817200-30817400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:30817200-30817400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:30817200-30817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:30817200-30817800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:30817200-30817800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:30817200-30818400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:30817400-30817600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:30817400-30817600	Enhancers	Left Ventricle	heart
18	chr4:30817600-30818800	Weak transcription	Fetal Lung	lung
19	chr4:30817600-30820400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:30817600-30824000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:30817800-30819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:30817800-30820200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:30818000-30818200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:30818000-30818400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:30818000-30823000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:30818400-30818600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:30818400-30819600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:30818600-30823600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:30818800-30819000	Enhancers	Fetal Lung	lung
30	chr4:30819000-30819600	Weak transcription	Fetal Lung	lung
31	chr4:30819000-30821600	Enhancers	Fetal Heart	heart
32	chr4:30819400-30819800	Enhancers	Left Ventricle	heart
33	chr4:30819400-30820400	Enhancers	Aorta	Aorta
34	chr4:30819600-30819800	Enhancers	Fetal Lung	lung
35	chr4:30819600-30819800	Enhancers	Ovary	ovary
36	chr4:30819600-30820800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:30819600-30821600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:30819800-30820800	Weak transcription	Ovary	ovary
39	chr4:30819800-30821000	Weak transcription	Fetal Lung	lung
40	chr4:30819800-30821400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:30820000-30820800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:30820000-30821800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:30820200-30820800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:30820400-30821200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:30820400-30824600	Weak transcription	Aorta	Aorta
46	chr4:30820800-30821000	Enhancers	Ovary	ovary
47	chr4:30820800-30823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:30821000-30821200	Enhancers	Fetal Lung	lung
49	chr4:30821000-30821600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:30821000-30823000	Weak transcription	Ovary	ovary

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