Variant report

Variant	nsv292306
Chromosome Location	chr4:7456519-7457171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7455060..7457538-chr4:7459563..7461357,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539459253	chr4:7456532-7456533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558571032	chr4:7456538-7456539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201322216	chr4:7456580-7456581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551321286	chr4:7456590-7456591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566475889	chr4:7456592-7456593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533861875	chr4:7456600-7456601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200325512	chr4:7456618-7456619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555322957	chr4:7456690-7456691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199573194	chr4:7456694-7456695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144241246	chr4:7456703-7456704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527891677	chr4:7456714-7456715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56404112	chr4:7456717-7456718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145515982	chr4:7456748-7456749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200442609	chr4:7456763-7456764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71612272	chr4:7456868-7456869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs66637290	chr4:7456904-7456905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199957438	chr4:7456921-7456922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556044724	chr4:7456933-7456934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577488274	chr4:7456934-7456935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373567655	chr4:7456970-7456971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376811719	chr4:7456974-7456975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545089241	chr4:7457003-7457004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201613165	chr4:7457011-7457012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71613818	chr4:7457031-7457032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200866163	chr4:7457048-7457049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560523908	chr4:7457049-7457050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200453939	chr4:7457122-7457123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538750040	chr4:7457136-7457137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386671225	chr4:7457137-7457138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572493275	chr4:7457139-7457140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543097912	chr4:7457140-7457141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373958638	chr4:7457153-7457154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
2	chr4:7454400-7458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:7455000-7460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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