Variant report

Variant	nsv527827
Chromosome Location	chr1:216470107-216475542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576393208	chr1:216473637-216473638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80142701	chr1:216473672-216473673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555293663	chr1:216473743-216473744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17042212	chr1:216473745-216473746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373815784	chr1:216473752-216473753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563819489	chr1:216473796-216473797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139259133	chr1:216473826-216473827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560182745	chr1:216473882-216473883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563586936	chr1:216473886-216473887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545319443	chr1:216473910-216473911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144049213	chr1:216473925-216473926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549422857	chr1:216473965-216473966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566029583	chr1:216473978-216473979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534354699	chr1:216473986-216473987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551826886	chr1:216474038-216474039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565103857	chr1:216474057-216474058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367694465	chr1:216474060-216474061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531354825	chr1:216474083-216474084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12047606	chr1:216474091-216474092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs28607400	chr1:216474127-216474128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549996013	chr1:216474152-216474153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569751587	chr1:216474174-216474175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116007659	chr1:216474181-216474182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1849376	chr1:216474186-216474187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572336639	chr1:216474216-216474217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12043028	chr1:216474221-216474222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557373091	chr1:216474225-216474226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577316003	chr1:216474291-216474292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543117967	chr1:216474306-216474307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560821578	chr1:216474307-216474308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190722304	chr1:216474325-216474326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182556110	chr1:216474326-216474327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529755540	chr1:216474329-216474330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549551416	chr1:216474355-216474356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559773925	chr1:216474377-216474378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528815810	chr1:216474381-216474382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1856690	chr1:216474382-216474383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565322458	chr1:216474441-216474442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530977224	chr1:216474460-216474461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150528286	chr1:216474488-216474489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532691938	chr1:216474628-216474629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569806461	chr1:216474680-216474681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139503576	chr1:216474697-216474698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374706576	chr1:216474759-216474760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552435565	chr1:216474763-216474764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565828889	chr1:216474826-216474827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149675347	chr1:216474831-216474832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111486831	chr1:216474890-216474891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557285090	chr1:216474916-216474917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79555960	chr1:216474973-216474974	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pleomorphic liposarcoma	18784837	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216473600-216475200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:216475400-216475800	Enhancers	Fetal Heart	heart

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