Variant report

Variant	nsv947148
Chromosome Location	chr1:195507012-195546923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
2	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:
3	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
4	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
5	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
6	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
7	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:

Extended variants
information (count: 162 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs112741207	chr1:195514609-195514610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548161869	chr1:195514619-195514620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536083177	chr1:195514778-195514779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554349817	chr1:195514805-195514806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111446919	chr1:195514814-195514815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76019441	chr1:195514834-195514835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558972881	chr1:195514873-195514874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577198557	chr1:195514885-195514886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115205576	chr1:195514926-195514927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374297016	chr1:195514966-195514967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553433027	chr1:195514972-195514973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75565459	chr1:195515037-195515038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542495451	chr1:195515147-195515148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71569062	chr1:195515157-195515158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111842455	chr1:195515158-195515159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2773453	chr1:195515159-195515160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543578549	chr1:195515188-195515189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146923442	chr1:195515212-195515213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61505486	chr1:195515273-195515274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552419087	chr1:195515275-195515276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532056192	chr1:195515288-195515289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571069009	chr1:195515291-195515292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559045278	chr1:195515314-195515315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113320758	chr1:195515349-195515350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548049927	chr1:195515362-195515363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569528841	chr1:195515378-195515379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193245592	chr1:195517202-195517203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74135116	chr1:195517212-195517213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568562696	chr1:195517315-195517316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572912494	chr1:195517316-195517317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529344565	chr1:195517360-195517361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372248898	chr1:195517368-195517369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114600309	chr1:195517392-195517393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545480107	chr1:195518481-195518482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369509704	chr1:195518542-195518543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558073961	chr1:195518564-195518565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573063361	chr1:195518634-195518635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371620711	chr1:195518662-195518663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1576473	chr1:195518668-195518669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561885943	chr1:195518698-195518699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78310413	chr1:195518718-195518719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544749156	chr1:195518732-195518733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374634587	chr1:195518777-195518778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188576014	chr1:195518805-195518806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531721522	chr1:195518812-195518813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146933277	chr1:195518818-195518819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368223480	chr1:195518841-195518842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79874954	chr1:195518857-195518858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1854679	chr1:195518858-195518859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398053674	chr1:195518859-195518860	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195514600-195515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:195517200-195517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:195518400-195519200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:195519200-195519400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr1:195519400-195520200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:195519600-195519800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr1:195536800-195537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:195537200-195537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:195537600-195538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:195546800-195547400	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links