Variant report

Variant	nsv947381
Chromosome Location	chr1:217161792-217165732
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	chr1:217165379..217166249-chr5:170520563..170521270,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPATA17-8	chr1:217164726-217164825	l_185_chr1:217158808-217164825_testes
2	lnc-SPATA17-8	chr1:217164426-217164723	l_185_chr1:217158808-217164825_testes

Extended variants
information (count: 178 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192266440	chr1:217161830-217161831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531327993	chr1:217161932-217161933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144478149	chr1:217161947-217161948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531873589	chr1:217162064-217162065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183541035	chr1:217162066-217162067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569671671	chr1:217162073-217162074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548059251	chr1:217162131-217162132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571091471	chr1:217162158-217162159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540001329	chr1:217162242-217162243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139118645	chr1:217162251-217162252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570128127	chr1:217162344-217162345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535960157	chr1:217162354-217162355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146881451	chr1:217162369-217162370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35508057	chr1:217162399-217162400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73099452	chr1:217162410-217162411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548083601	chr1:217162430-217162431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17044788	chr1:217162443-217162444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs139756452	chr1:217162486-217162487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545951415	chr1:217162487-217162488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188590131	chr1:217162502-217162503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74946152	chr1:217162506-217162507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74793809	chr1:217162516-217162517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541528980	chr1:217162521-217162522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561486136	chr1:217162562-217162563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527276657	chr1:217162566-217162567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547104846	chr1:217162616-217162617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114405706	chr1:217162660-217162661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374336424	chr1:217162665-217162666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533469379	chr1:217162670-217162671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73099455	chr1:217162687-217162688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192752695	chr1:217162693-217162694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116145772	chr1:217162726-217162727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555889944	chr1:217162734-217162735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151085276	chr1:217162745-217162746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182381210	chr1:217162748-217162749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79874633	chr1:217162769-217162770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67759463	chr1:217162770-217162771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397793545	chr1:217162791-217162792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376165863	chr1:217162792-217162793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535385356	chr1:217162860-217162861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577033134	chr1:217162870-217162871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545788414	chr1:217162878-217162879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3000609	chr1:217162879-217162880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs575829694	chr1:217162886-217162887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541655934	chr1:217162902-217162903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561423025	chr1:217162965-217162966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527416328	chr1:217162987-217162988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186696972	chr1:217163080-217163081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563931992	chr1:217163101-217163102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578240279	chr1:217163119-217163120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Breast cancer	21858162	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:217161200-217170600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links