Variant report

Variant	nsv946482
Chromosome Location	chr1:165787788-165790108
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	CTCF	chr1:165788458-165788535	GM20000	blood:	n/a	n/a
2	IRF1	chr1:165788764-165788770	K562	blood:	n/a	n/a
3	POLR2A	chr1:165788025-165788070	K562	blood:	n/a	n/a
4	POLR2A	chr1:165789249-165789345	A549	lung:	n/a	n/a
5	POLR2A	chr1:165789570-165789574	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165789977..165794630-chr1:165795675..165799521,5	MCF-7	breast:
2	chr1:165789511..165794816-chr1:165795192..165798918,9	MCF-7	breast:
3	chr1:165742597..165744682-chr1:165785912..165787963,2	K562	blood:

Variant related genes	Relation type
ENSG00000230659	TF binding region
ENSG00000143179	chromatin interactions
ENSG00000143183	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188075159	chr1:165787859-165787860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562476493	chr1:165787878-165787879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11378270	chr1:165787885-165787886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397752860	chr1:165787890-165787891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375461945	chr1:165787891-165787892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369535067	chr1:165787892-165787893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10800159	chr1:165787956-165787957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs57321267	chr1:165787957-165787958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541693523	chr1:165787979-165787980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561538880	chr1:165788054-165788055	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527239213	chr1:165788058-165788059	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7528944	chr1:165788067-165788068	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564201026	chr1:165788112-165788113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12131697	chr1:165788117-165788118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552784901	chr1:165788120-165788121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60656801	chr1:165788127-165788128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538557192	chr1:165788128-165788129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150885862	chr1:165788148-165788149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73016665	chr1:165788155-165788156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59853361	chr1:165788247-165788248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554013270	chr1:165788253-165788254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550893937	chr1:165788256-165788257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376712743	chr1:165788257-165788258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548436540	chr1:165788267-165788268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368090341	chr1:165788281-165788282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376183925	chr1:165788296-165788297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571420832	chr1:165788306-165788307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4617381	chr1:165788307-165788308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60869993	chr1:165788308-165788309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7518488	chr1:165788309-165788310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115299544	chr1:165788314-165788315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112830680	chr1:165788319-165788320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183467830	chr1:165788335-165788336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116791998	chr1:165788356-165788357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553414931	chr1:165788369-165788370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572950906	chr1:165788416-165788417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568237277	chr1:165788428-165788429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538640074	chr1:165788429-165788430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11394162	chr1:165788431-165788432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60329061	chr1:165788432-165788433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570549341	chr1:165788446-165788447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35115394	chr1:165788482-165788483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188521740	chr1:165788492-165788493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs564200467	chr1:165788545-165788546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533083513	chr1:165788582-165788583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549871471	chr1:165788655-165788656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113703109	chr1:165788688-165788689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563080888	chr1:165788723-165788724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150052941	chr1:165788738-165788739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116090068	chr1:165788782-165788783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165785400-165788000	Weak transcription	Gastric	stomach
2	chr1:165785600-165790600	Weak transcription	Right Atrium	heart
3	chr1:165787600-165792800	Weak transcription	K562	blood
4	chr1:165787800-165790200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:165789600-165790600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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