Variant report

Variant	nsv520724
Chromosome Location	chr1:216077764-216080155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11120694	chr1:216077764-216077765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552807999	chr1:216077791-216077792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549576960	chr1:216077800-216077801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74141457	chr1:216077806-216077807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183264137	chr1:216077907-216077908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188507366	chr1:216077913-216077914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145182182	chr1:216078098-216078099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535215315	chr1:216078105-216078106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540227243	chr1:216078141-216078142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78700240	chr1:216078169-216078170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116663641	chr1:216078187-216078188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552378001	chr1:216078204-216078205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563128413	chr1:216078242-216078243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531797589	chr1:216078243-216078244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550692176	chr1:216078297-216078298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541596759	chr1:216078317-216078318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561715879	chr1:216078341-216078342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200870036	chr1:216078347-216078348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115277785	chr1:216078401-216078402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12562080	chr1:216078402-216078403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77108207	chr1:216078406-216078407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564109726	chr1:216078453-216078454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142195781	chr1:216078510-216078511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538905595	chr1:216078511-216078512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17025581	chr1:216078513-216078514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570328082	chr1:216078514-216078515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575428185	chr1:216078541-216078542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537634447	chr1:216078577-216078578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555091297	chr1:216078586-216078587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532749522	chr1:216078587-216078588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537760744	chr1:216078593-216078594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574544064	chr1:216078596-216078597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150454271	chr1:216078604-216078605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560088533	chr1:216078611-216078612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111481829	chr1:216078626-216078627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144475912	chr1:216078657-216078658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576805970	chr1:216078698-216078699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546123090	chr1:216078702-216078703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138224893	chr1:216078750-216078751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531982550	chr1:216078770-216078771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191759750	chr1:216078784-216078785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547331465	chr1:216078809-216078810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35318613	chr1:216078812-216078813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75132625	chr1:216078820-216078821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149576480	chr1:216078884-216078885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75039770	chr1:216078929-216078930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115841321	chr1:216078958-216078959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538620461	chr1:216078998-216078999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552481575	chr1:216079003-216079004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11590241	chr1:216079027-216079028	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216076200-216079600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:216076800-216077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:216077800-216081000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:216078400-216079400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:216078600-216079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:216078800-216079800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:216079000-216079600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:216079600-216079800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:216079800-216080000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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