Variant report

Variant	nsv1005279
Chromosome Location	chr1:189159261-189215351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189166300..189168058-chr1:189173903..189175630,2	MCF-7	breast:
2	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
3	chr1:189118692..189120237-chr1:189161776..189163535,2	K562	blood:
4	chr1:189166300..189168058-chr1:189173903..189175630,2	MCF-7	breast:
5	chr1:189116028..189120237-chr1:189160506..189163276,3	K562	blood:
6	chr1:189117472..189119445-chr1:189184383..189186495,2	K562	blood:
7	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
8	chr1:189167872..189169675-chr1:189171676..189174219,2	K562	blood:
9	chr1:189167872..189169675-chr1:189171676..189174219,2	K562	blood:
10	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
11	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
12	chr1:189170367..189172924-chr1:189189578..189192081,2	K562	blood:
13	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
14	chr1:189170367..189172924-chr1:189189578..189192081,2	K562	blood:

No data

Extended variants
information (count: 224 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189814643	chr1:189165054-189165055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79997192	chr1:189165061-189165062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144395700	chr1:189165085-189165086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148787956	chr1:189165108-189165109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575668327	chr1:189165136-189165137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182195679	chr1:189165157-189165158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561678281	chr1:189165198-189165199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533957175	chr1:189165619-189165620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547300261	chr1:189165637-189165638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142282497	chr1:189165644-189165645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539333438	chr1:189165661-189165662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556080712	chr1:189165673-189165674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374650220	chr1:189165679-189165680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559906273	chr1:189165735-189165736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535083036	chr1:189165757-189165758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75010930	chr1:189165803-189165804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145489524	chr1:189165859-189165860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541582908	chr1:189165865-189165866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531542041	chr1:189165887-189165888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543619247	chr1:189165911-189165912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578233103	chr1:189165917-189165918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544116810	chr1:189165946-189165947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563976503	chr1:189165992-189165993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112336865	chr1:189165993-189165994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60373587	chr1:189166042-189166043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565121518	chr1:189166114-189166115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532234128	chr1:189166117-189166118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78813176	chr1:189166125-189166126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570454888	chr1:189166128-189166129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73057061	chr1:189166162-189166163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140307712	chr1:189166223-189166224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150341602	chr1:189166226-189166227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549616413	chr1:189166235-189166236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138100961	chr1:189166275-189166276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184975354	chr1:189166320-189166321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377718383	chr1:189166359-189166360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555090452	chr1:189166367-189166368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565695337	chr1:189166368-189166369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs16830200	chr1:189166378-189166379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557872637	chr1:189166409-189166410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149119328	chr1:189166415-189166416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114806949	chr1:189166417-189166418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12567937	chr1:189166449-189166450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75587754	chr1:189166455-189166456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557654853	chr1:189166493-189166494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574410163	chr1:189166494-189166495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543336469	chr1:189166529-189166530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189769842	chr1:189166601-189166602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528528756	chr1:189166627-189166628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545169900	chr1:189166648-189166649	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	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
Breast cancer	17899364	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189165000-189165200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:189165600-189167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:189174200-189174800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:189175000-189175400	Enhancers	A549	lung
5	chr1:189181800-189182600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:189182000-189182800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:189194000-189194800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:189194600-189194800	ZNF genes & repeats	Gastric	stomach
9	chr1:189196000-189196400	Active TSS	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links