Variant report

Variant	nsv519324
Chromosome Location	chr1:228006058-228023468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228003528..228005647-chr1:228006569..228009542,2	K562	blood:
2	chr1:228020602..228022797-chr1:228027423..228029400,2	K562	blood:
3	chr1:227912232..227914345-chr1:228021397..228023530,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541866433	chr1:228014854-228014855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80097423	chr1:228014893-228014894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559844297	chr1:228015027-228015028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145980073	chr1:228015033-228015034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542452695	chr1:228015047-228015048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563840686	chr1:228015062-228015063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531050346	chr1:228015067-228015068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148632620	chr1:228015079-228015080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76725378	chr1:228015323-228015324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7413481	chr1:228015341-228015342	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373587982	chr1:228015344-228015345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78401003	chr1:228015360-228015361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546969192	chr1:228015375-228015376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184062398	chr1:228015376-228015377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7415634	chr1:228015378-228015379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550376421	chr1:228015386-228015387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188612482	chr1:228015488-228015489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539223816	chr1:228015535-228015536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35174545	chr1:228015542-228015543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71180766	chr1:228015545-228015546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192279514	chr1:228015546-228015547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183137918	chr1:228015642-228015643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187468789	chr1:228015656-228015657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555303879	chr1:228015688-228015689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7528043	chr1:228015713-228015714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562248034	chr1:228015757-228015758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575049173	chr1:228015787-228015788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542513897	chr1:228015864-228015865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141189461	chr1:228015873-228015874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575944801	chr1:228015889-228015890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546411107	chr1:228015916-228015917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115942735	chr1:228015977-228015978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528539022	chr1:228015980-228015981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150723537	chr1:228016057-228016058	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562078502	chr1:228016064-228016065	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529169768	chr1:228016072-228016073	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557930494	chr1:228016089-228016090	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74417057	chr1:228016166-228016167	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370373918	chr1:228016181-228016182	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568792586	chr1:228016192-228016193	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532998025	chr1:228016231-228016232	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551509458	chr1:228016234-228016235	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552220976	chr1:228016264-228016265	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79550478	chr1:228016327-228016328	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528448068	chr1:228016344-228016345	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75736736	chr1:228016351-228016352	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567300233	chr1:228016369-228016370	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1582114	chr1:228016370-228016371	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138995958	chr1:228016384-228016385	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35941477	chr1:228016392-228016393	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228014800-228015000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr1:228014800-228016800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:228015000-228015800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:228015000-228016800	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:228015800-228017000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:228016000-228017000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr1:228016200-228016600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:228016200-228017000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:228016600-228016800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:228016600-228017000	Enhancers	Dnd41	blood
11	chr1:228016600-228017000	Enhancers	HMEC	breast

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