Variant report

Variant	nsv521310
Chromosome Location	chr16:82772868-82776389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82771591..82773606-chr16:82773856..82775987,2	MCF-7	breast:
2	chr16:82771591..82773606-chr16:82773856..82775987,2	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16958428	chr16:82772868-82772869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563070751	chr16:82772882-82772883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533676686	chr16:82772903-82772904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150586099	chr16:82772913-82772914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560748628	chr16:82772914-82772915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140554325	chr16:82772934-82772935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549087399	chr16:82772941-82772942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183192445	chr16:82772970-82772971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186393839	chr16:82772991-82772992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553745344	chr16:82773004-82773005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76739896	chr16:82773008-82773009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571497118	chr16:82773038-82773039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111836244	chr16:82773047-82773048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538913916	chr16:82773102-82773103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553740628	chr16:82773111-82773112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144386309	chr16:82773141-82773142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372042904	chr16:82773146-82773147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554718917	chr16:82773152-82773153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576187127	chr16:82773256-82773257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112519000	chr16:82773283-82773284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192418675	chr16:82773314-82773315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13380507	chr16:82773315-82773316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528829151	chr16:82773347-82773348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576724924	chr16:82773357-82773358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531521087	chr16:82773359-82773360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545687766	chr16:82773373-82773374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560387889	chr16:82773442-82773443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62034478	chr16:82773476-82773477	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542796886	chr16:82773486-82773487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139529443	chr16:82773489-82773490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183973236	chr16:82773526-82773527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187739151	chr16:82773556-82773557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571622138	chr16:82773578-82773579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532354224	chr16:82773579-82773580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565371982	chr16:82773585-82773586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547688369	chr16:82773609-82773610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374943516	chr16:82773614-82773615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565943631	chr16:82773628-82773629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74030809	chr16:82773635-82773636	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192372073	chr16:82773637-82773638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372959504	chr16:82773694-82773695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537160825	chr16:82773695-82773696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74030810	chr16:82773724-82773725	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149879273	chr16:82773736-82773737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369024658	chr16:82773745-82773746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13337229	chr16:82773749-82773750	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142822999	chr16:82773759-82773760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144872235	chr16:82773825-82773826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377001704	chr16:82773841-82773842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16958435	chr16:82773859-82773860	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82750200-82780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:82762000-82773800	Weak transcription	NHEK	skin
3	chr16:82766800-82788600	Weak transcription	HMEC	breast
4	chr16:82768600-82773400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:82768600-82775800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr16:82768600-82784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82769200-82785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:82769800-82774000	Weak transcription	HSMM	muscle
9	chr16:82770000-82774800	Weak transcription	Osteobl	bone
10	chr16:82770000-82782800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:82770600-82774000	Weak transcription	Aorta	Aorta
12	chr16:82770600-82774600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:82770600-82778200	Weak transcription	Left Ventricle	heart
14	chr16:82771000-82781000	Weak transcription	HSMMtube	muscle
15	chr16:82771000-82781400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:82772200-82778000	Weak transcription	Psoas Muscle	Psoas
17	chr16:82772400-82781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:82772600-82778000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:82773400-82774400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:82773800-82774600	Strong transcription	NHEK	skin
21	chr16:82774000-82774200	ZNF genes & repeats	Aorta	Aorta
22	chr16:82774000-82775000	Strong transcription	HSMM	muscle
23	chr16:82774200-82781400	Weak transcription	Aorta	Aorta
24	chr16:82774400-82792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:82774600-82775200	Enhancers	NH-A	brain
26	chr16:82774600-82787400	Weak transcription	NHEK	skin
27	chr16:82774800-82775200	Enhancers	Osteobl	bone
28	chr16:82775000-82781000	Weak transcription	HSMM	muscle

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