Variant report

Variant	nsv998330
Chromosome Location	chr1:189176218-189244149
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:188973723..188976058-chr1:189233583..189235147,2	K562	blood:
2	chr1:189170367..189172924-chr1:189189578..189192081,2	K562	blood:
3	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
4	chr1:189117472..189119445-chr1:189184383..189186495,2	K562	blood:
5	chr1:189241863..189244063-chr1:189280100..189282823,2	K562	blood:
6	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
7	chr1:189236800..189238519-chr1:189240063..189242886,2	MCF-7	breast:
8	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
9	chr1:189236800..189238519-chr1:189240063..189242886,2	MCF-7	breast:
10	chr1:189205219..189208075-chr1:189212130..189213812,2	K562	blood:
11	chr1:189174928..189177287-chr1:189180109..189182692,2	K562	blood:
12	chr1:189240516..189243229-chr1:189245624..189247512,2	K562	blood:

No data

Extended variants
information (count: 187 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs527617988	chr1:189181838-189181839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547352879	chr1:189181857-189181858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570391170	chr1:189181893-189181894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533041499	chr1:189181940-189181941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144068892	chr1:189181941-189181942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570219326	chr1:189182013-189182014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536074288	chr1:189182015-189182016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184737652	chr1:189182055-189182056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566356633	chr1:189182061-189182062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535043077	chr1:189182074-189182075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558124843	chr1:189182118-189182119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370548703	chr1:189182145-189182146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577995918	chr1:189182146-189182147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543852544	chr1:189182168-189182169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75778759	chr1:189182169-189182170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557044365	chr1:189182199-189182200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575804787	chr1:189182266-189182267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148660434	chr1:189182297-189182298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561580678	chr1:189182316-189182317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527572707	chr1:189182319-189182320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35460950	chr1:189182329-189182330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79573568	chr1:189182344-189182345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147431128	chr1:189182345-189182346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572602571	chr1:189182355-189182356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532795812	chr1:189182375-189182376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188147265	chr1:189182392-189182393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566781223	chr1:189182485-189182486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569792342	chr1:189182531-189182532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16830244	chr1:189182592-189182593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139461403	chr1:189182614-189182615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374643134	chr1:189182679-189182680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181002611	chr1:189182771-189182772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546798206	chr1:189194022-189194023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113077477	chr1:189194080-189194081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376567118	chr1:189194119-189194120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537587146	chr1:189194123-189194124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555144350	chr1:189194127-189194128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12134517	chr1:189194131-189194132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534465546	chr1:189194135-189194136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554522216	chr1:189194140-189194141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188359445	chr1:189194183-189194184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546202704	chr1:189194192-189194193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191654507	chr1:189194237-189194238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112898179	chr1:189194255-189194256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372444069	chr1:189194259-189194260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376701224	chr1:189194275-189194276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs541960991	chr1:189194283-189194284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561093490	chr1:189194308-189194309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369020626	chr1:189194309-189194310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184207039	chr1:189194332-189194333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189181800-189182600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:189182000-189182800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:189194000-189194800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:189194600-189194800	ZNF genes & repeats	Gastric	stomach
5	chr1:189196000-189196400	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr1:189237000-189237200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr1:189237000-189237400	ZNF genes & repeats	Liver	Liver
8	chr1:189237200-189237800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr1:189237200-189238800	ZNF genes & repeats	Adipose Nuclei	Adipose

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