Variant report

Variant	nsv967730
Chromosome Location	chr4:19815364-19817649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr4:19816368-19816372	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr4:19816422-19816622	HepG2	liver:	n/a	n/a
3	MAFK	chr4:19817260-19817473	HepG2	liver:	n/a	chr4:19817323-19817334 chr4:19817323-19817339 chr4:19817324-19817335 chr4:19817323-19817334
4	RAD21	chr4:19816365-19816479	H1-hESC	embryonic stem cell:	n/a	n/a
5	STAT3	chr4:19816217-19816398	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000241612	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547248864	chr4:19815365-19815366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540591430	chr4:19815376-19815377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184915706	chr4:19815377-19815378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577648558	chr4:19815405-19815406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75322959	chr4:19815458-19815459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189760799	chr4:19815541-19815542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531084634	chr4:19815575-19815576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145026763	chr4:19815604-19815605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547967300	chr4:19815645-19815646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181073313	chr4:19815681-19815682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528814550	chr4:19815718-19815719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546996022	chr4:19815720-19815721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571650770	chr4:19815735-19815736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532493120	chr4:19815745-19815746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568057763	chr4:19815758-19815759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184437900	chr4:19815760-19815761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142269112	chr4:19815768-19815769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537210152	chr4:19815774-19815775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144548210	chr4:19815838-19815839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371862528	chr4:19815894-19815895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71179253	chr4:19815895-19815896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147872989	chr4:19815909-19815910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397992461	chr4:19815912-19815913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113338511	chr4:19815913-19815914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368020170	chr4:19815954-19815955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187985711	chr4:19815958-19815959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181884992	chr4:19815984-19815985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530476450	chr4:19816014-19816015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141563999	chr4:19816034-19816035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111743235	chr4:19816131-19816132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556973802	chr4:19816138-19816139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151064096	chr4:19816144-19816145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141022930	chr4:19816148-19816149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150243067	chr4:19816177-19816178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573564629	chr4:19816185-19816186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199746483	chr4:19816190-19816191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10010792	chr4:19816193-19816194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565135265	chr4:19816199-19816200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532489762	chr4:19816203-19816204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186144676	chr4:19816261-19816262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550709568	chr4:19816269-19816270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562967104	chr4:19816379-19816380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10021410	chr4:19816401-19816402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548750596	chr4:19816410-19816411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567163068	chr4:19816414-19816415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538995869	chr4:19816423-19816424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370789980	chr4:19816428-19816429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190557301	chr4:19816493-19816494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546826256	chr4:19816516-19816517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138976947	chr4:19816525-19816526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19811400-19829200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:19813000-19817800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:19817600-19818800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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