Variant report

Variant	nsv573034
Chromosome Location	chr16:76531120-76542393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:76542177..76544098-chr6:26155995..26158781,2	MCF-7	breast:
2	chr16:76534271..76535887-chr16:76537682..76540215,2	MCF-7	breast:
3	chr16:76534271..76535887-chr16:76537682..76540215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168298	chromatin interactions
ENSG00000158373	chromatin interactions

Extended variants
information (count: 577 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12185204	chr16:76531120-76531121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532000444	chr16:76531128-76531129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7187953	chr16:76531134-76531135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568610745	chr16:76531140-76531141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534109813	chr16:76531171-76531172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192166602	chr16:76531172-76531173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570601040	chr16:76531235-76531236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539452484	chr16:76531256-76531257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72799038	chr16:76531303-76531304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183490153	chr16:76531356-76531357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538116133	chr16:76531367-76531368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529346332	chr16:76531422-76531423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537600350	chr16:76531485-76531486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7195102	chr16:76531490-76531491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7199988	chr16:76531508-76531509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186723559	chr16:76531509-76531510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560337624	chr16:76531511-76531512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576964326	chr16:76531559-76531560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539867897	chr16:76531560-76531561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2879778	chr16:76531561-76531562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7200148	chr16:76531582-76531583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541975231	chr16:76531596-76531597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527926209	chr16:76531610-76531611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547670237	chr16:76531672-76531673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191574202	chr16:76531685-76531686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12445221	chr16:76531756-76531757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73622806	chr16:76531773-76531774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377278131	chr16:76531781-76531782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549786277	chr16:76531790-76531791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138816547	chr16:76531805-76531806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9937631	chr16:76531841-76531842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182678879	chr16:76531850-76531851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12448831	chr16:76531851-76531852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544626178	chr16:76531885-76531886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61049916	chr16:76531900-76531901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141908703	chr16:76531953-76531954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577026917	chr16:76531962-76531963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545884752	chr16:76531977-76531978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143653517	chr16:76532014-76532015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556269481	chr16:76532029-76532030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562823356	chr16:76532038-76532039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111708347	chr16:76532045-76532046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142000771	chr16:76532046-76532047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527940136	chr16:76532097-76532098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546604554	chr16:76532099-76532100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188086673	chr16:76532113-76532114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537693648	chr16:76532135-76532136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549899003	chr16:76532182-76532183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570044714	chr16:76532186-76532187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60414066	chr16:76532206-76532207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76524000-76537000	Weak transcription	Brain Substantia Nigra	brain
2	chr16:76524400-76537000	Weak transcription	Brain Anterior Caudate	brain
3	chr16:76524600-76537200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:76525200-76554000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:76525600-76535600	Weak transcription	Brain Hippocampus Middle	brain

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