Variant report

Variant	nsv499039
Chromosome Location	chr4:30819213-30830142
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	chr11:133970057..133970557-chr4:30821917..30822646,2	HCT-116	colon:
3	chr4:30821360..30824099-chr4:30824392..30825995,2	MCF-7	breast:

Extended variants
information (count: 426 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576765147	chr4:30819224-30819225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556154469	chr4:30819234-30819235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368023108	chr4:30819238-30819239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532287411	chr4:30819240-30819241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576300695	chr4:30819286-30819287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574618079	chr4:30819291-30819292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541925617	chr4:30819387-30819388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557216084	chr4:30819409-30819410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575477817	chr4:30819425-30819426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546129706	chr4:30819435-30819436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74435316	chr4:30819438-30819439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371879836	chr4:30819447-30819448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187512087	chr4:30819457-30819458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139772541	chr4:30819543-30819544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576509892	chr4:30819556-30819557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529365838	chr4:30819576-30819577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558867076	chr4:30819617-30819618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550624198	chr4:30819631-30819632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569116454	chr4:30819648-30819649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112834503	chr4:30819690-30819691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572637916	chr4:30819695-30819696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149809408	chr4:30819698-30819699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551678630	chr4:30819713-30819714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144992247	chr4:30819761-30819762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534210300	chr4:30819790-30819791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552961177	chr4:30819793-30819794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568034659	chr4:30819802-30819803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535560182	chr4:30819815-30819816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557055211	chr4:30819822-30819823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575514227	chr4:30819827-30819828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370019029	chr4:30819860-30819861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192326053	chr4:30819868-30819869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573129736	chr4:30819958-30819959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142196811	chr4:30819969-30819970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184004935	chr4:30819998-30819999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188877436	chr4:30820019-30820020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144433370	chr4:30820036-30820037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562688060	chr4:30820056-30820057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533240825	chr4:30820075-30820076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551985540	chr4:30820148-30820149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566928607	chr4:30820151-30820152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528010622	chr4:30820181-30820182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549377950	chr4:30820183-30820184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370498983	chr4:30820188-30820189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193272047	chr4:30820237-30820238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535394190	chr4:30820315-30820316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147840951	chr4:30820360-30820361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184709410	chr4:30820402-30820403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116809318	chr4:30820457-30820458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114585359	chr4:30820498-30820499	Enhancers Weak transcription	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30795800-30824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:30804800-30819400	Weak transcription	Aorta	Aorta
3	chr4:30813800-30835800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:30817600-30820400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:30817600-30824000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:30817800-30819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:30817800-30820200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:30818000-30823000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:30818400-30819600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:30818600-30823600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:30819000-30819600	Weak transcription	Fetal Lung	lung
12	chr4:30819000-30821600	Enhancers	Fetal Heart	heart
13	chr4:30819400-30819800	Enhancers	Left Ventricle	heart
14	chr4:30819400-30820400	Enhancers	Aorta	Aorta
15	chr4:30819600-30819800	Enhancers	Fetal Lung	lung
16	chr4:30819600-30819800	Enhancers	Ovary	ovary
17	chr4:30819600-30820800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:30819600-30821600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:30819800-30820800	Weak transcription	Ovary	ovary
20	chr4:30819800-30821000	Weak transcription	Fetal Lung	lung
21	chr4:30819800-30821400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:30820000-30820800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:30820000-30821800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:30820200-30820800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:30820400-30821200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:30820400-30824600	Weak transcription	Aorta	Aorta
27	chr4:30820800-30821000	Enhancers	Ovary	ovary
28	chr4:30820800-30823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:30821000-30821200	Enhancers	Fetal Lung	lung
30	chr4:30821000-30821600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:30821000-30823000	Weak transcription	Ovary	ovary
32	chr4:30821200-30823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:30821400-30823000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:30821600-30822800	Weak transcription	Fetal Heart	heart
35	chr4:30821600-30823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:30821600-30823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:30821800-30823400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:30822600-30823000	Weak transcription	Right Ventricle	heart
39	chr4:30822600-30823800	Enhancers	Hela-S3	cervix
40	chr4:30822600-30823800	Enhancers	HSMM	muscle
41	chr4:30822800-30823200	Enhancers	HMEC	breast
42	chr4:30822800-30824400	Enhancers	Fetal Heart	heart
43	chr4:30823000-30823200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:30823000-30823200	Enhancers	Ovary	ovary
45	chr4:30823000-30823200	Enhancers	Right Ventricle	heart
46	chr4:30823000-30823200	Enhancers	NH-A	brain
47	chr4:30823000-30823400	Enhancers	Fetal Stomach	stomach
48	chr4:30823000-30823600	Enhancers	Stomach Smooth Muscle	stomach
49	chr4:30823000-30824000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:30823000-30824200	Enhancers	HUES64 Cell Line	embryonic stem cell

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