Variant report

Variant	nsv525903
Chromosome Location	chr1:195929216-195930996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193362912..193364895-chr1:195930412..195933099,2	K562	blood:
2	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
3	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10801498	chr1:195929216-195929217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574185928	chr1:195929254-195929255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554052982	chr1:195929299-195929300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569616069	chr1:195929368-195929369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139712586	chr1:195929376-195929377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184143643	chr1:195929384-195929385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34685362	chr1:195929401-195929402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397938469	chr1:195929408-195929409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7412456	chr1:195929458-195929459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543086115	chr1:195929461-195929462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558600488	chr1:195929502-195929503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576912229	chr1:195929507-195929508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533866144	chr1:195929517-195929518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188326987	chr1:195929531-195929532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559482246	chr1:195929564-195929565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192156952	chr1:195929584-195929585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145226910	chr1:195929587-195929588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542092072	chr1:195929605-195929606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563844613	chr1:195929608-195929609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530916256	chr1:195929620-195929621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576016477	chr1:195929630-195929631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185780963	chr1:195929657-195929658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10921996	chr1:195929658-195929659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190260735	chr1:195929666-195929667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182332450	chr1:195929671-195929672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60581745	chr1:195929677-195929678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565832225	chr1:195929694-195929695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536472178	chr1:195929716-195929717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59138310	chr1:195929748-195929749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554834518	chr1:195929752-195929753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113642236	chr1:195929766-195929767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569880610	chr1:195929772-195929773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564962595	chr1:195929773-195929774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12126570	chr1:195929779-195929780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558310319	chr1:195929828-195929829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs975314	chr1:195929833-195929834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534372409	chr1:195929839-195929840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186040248	chr1:195929934-195929935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574660240	chr1:195929945-195929946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147182451	chr1:195929953-195929954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377707606	chr1:195929967-195929968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113165023	chr1:195930060-195930061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188890854	chr1:195930061-195930062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527258986	chr1:195930092-195930093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371097860	chr1:195930096-195930097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80013937	chr1:195930184-195930185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528497548	chr1:195930190-195930191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553902624	chr1:195930225-195930226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34694084	chr1:195930261-195930262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181227480	chr1:195930303-195930304	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
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
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195926600-195929800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:195927600-195929600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:195928200-195933800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:195929200-195930000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:195929600-195930000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:195929800-195930000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:195929800-195930200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:195930000-195931000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links