Variant report

Variant	nsv945356
Chromosome Location	chr1:190800499-190815030
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	chr1:190795111..190798007-chr1:190800651..190802735,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-6	chr1:190802900-190802970	NONHSAT008510

Extended variants
information (count: 112 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140737088	chr1:190801424-190801425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142978613	chr1:190801442-190801443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576745319	chr1:190801461-190801462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567081086	chr1:190801464-190801465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534098829	chr1:190801471-190801472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544963798	chr1:190801473-190801474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558534095	chr1:190801492-190801493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192546594	chr1:190801558-190801559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544418213	chr1:190801560-190801561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561513454	chr1:190801564-190801565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530256555	chr1:190801593-190801594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12566828	chr1:190801615-190801616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538323791	chr1:190801660-190801661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74729452	chr1:190801667-190801668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75791448	chr1:190801668-190801669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76560082	chr1:190801669-190801670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147492844	chr1:190801715-190801716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375019400	chr1:190801768-190801769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552154611	chr1:190801817-190801818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185860953	chr1:190801819-190801820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60250004	chr1:190801833-190801834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79930814	chr1:190801849-190801850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531419710	chr1:190801862-190801863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548008861	chr1:190801882-190801883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139970742	chr1:190801883-190801884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577613863	chr1:190801888-190801889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553562507	chr1:190801940-190801941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190379376	chr1:190801964-190801965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539397851	chr1:190801978-190801979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7414106	chr1:190802039-190802040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181018311	chr1:190802127-190802128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575580343	chr1:190802164-190802165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184160288	chr1:190802189-190802190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554735152	chr1:190802192-190802193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142192798	chr1:190802197-190802198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540787687	chr1:190802220-190802221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78141186	chr1:190802275-190802276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532851709	chr1:190802284-190802285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575158873	chr1:190802285-190802286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562483119	chr1:190802350-190802351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189920438	chr1:190802388-190802389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181080914	chr1:190802391-190802392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561590407	chr1:190802484-190802485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527389430	chr1:190802498-190802499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547189787	chr1:190802500-190802501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543888856	chr1:190802514-190802515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16832838	chr1:190802532-190802533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs17382748	chr1:190802683-190802684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs151197340	chr1:190802689-190802690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186120382	chr1:190802723-190802724	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190801400-190803400	Enhancers	Fetal Lung	lung
2	chr1:190801800-190802200	Enhancers	Fetal Stomach	stomach
3	chr1:190801800-190802400	Enhancers	HepG2	liver
4	chr1:190803400-190804400	Weak transcription	Fetal Lung	lung
5	chr1:190804800-190805000	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links