Variant report

Variant	nsv827770
Chromosome Location	chr16:79779675-79780488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79777837..79780445-chr16:79803610..79805196,2	K562	blood:
2	chr16:79780045..79782681-chr16:79783424..79786926,3	K562	blood:
3	chr16:79780426..79781260-chr16:80118290..80119045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261390	chromatin interactions
ENSG00000260876	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190661715	chr16:79779683-79779684	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs146856320	chr16:79779693-79779694	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542765456	chr16:79779713-79779714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs4485383	chr16:79779719-79779720	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573778872	chr16:79779777-79779778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572153042	chr16:79779787-79779788	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78050876	chr16:79779794-79779795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116383227	chr16:79779812-79779813	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374416995	chr16:79779834-79779835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377323558	chr16:79779858-79779859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533097814	chr16:79779878-79779879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs56119147	chr16:79779899-79779900	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182898532	chr16:79779908-79779909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369395034	chr16:79779920-79779921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12927650	chr16:79779958-79779959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187126619	chr16:79779959-79779960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138890957	chr16:79779960-79779961	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530110021	chr16:79779978-79779979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567819837	chr16:79779986-79779987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs62041262	chr16:79779990-79779991	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs398058422	chr16:79779996-79779997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74540581	chr16:79779998-79779999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550428259	chr16:79780009-79780010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113047548	chr16:79780060-79780061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs80069749	chr16:79780131-79780132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77117350	chr16:79780132-79780133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs76841111	chr16:79780143-79780144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs60827965	chr16:79780145-79780146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs191136979	chr16:79780150-79780151	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144833228	chr16:79780212-79780213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532338497	chr16:79780237-79780238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376794202	chr16:79780247-79780248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565958297	chr16:79780282-79780283	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs55993612	chr16:79780287-79780288	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554747053	chr16:79780291-79780292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576164099	chr16:79780329-79780330	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs537641819	chr16:79780342-79780343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555987565	chr16:79780361-79780362	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577469832	chr16:79780373-79780374	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565960248	chr16:79780387-79780388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs544983031	chr16:79780397-79780398	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373918296	chr16:79780413-79780414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145454263	chr16:79780414-79780415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143145335	chr16:79780415-79780416	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113079799	chr16:79780416-79780417	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs144665931	chr16:79780417-79780418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372966425	chr16:79780418-79780419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536240793	chr16:79780484-79780485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Schizophrenia	21346763	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79772600-79785600	Weak transcription	Fetal Lung	lung
2	chr16:79775600-79782800	Weak transcription	Fetal Intestine Small	intestine

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