Variant report

Variant	nsv528144
Chromosome Location	chr16:76596858-76597957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4506930	chr16:76596858-76596859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376028799	chr16:76596884-76596885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568604450	chr16:76596914-76596915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189866516	chr16:76596933-76596934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141123268	chr16:76596934-76596935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75400204	chr16:76597082-76597083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59511341	chr16:76597092-76597093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181508451	chr16:76597100-76597101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11149913	chr16:76597134-76597135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs62045784	chr16:76597199-76597200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375856226	chr16:76597253-76597254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74705820	chr16:76597290-76597291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79684937	chr16:76597296-76597297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370092294	chr16:76597304-76597305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10871326	chr16:76597308-76597309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532136511	chr16:76597314-76597315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551883010	chr16:76597381-76597382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115200443	chr16:76597393-76597394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531897295	chr16:76597432-76597433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150154723	chr16:76597433-76597434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554812261	chr16:76597438-76597439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187047452	chr16:76597472-76597473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117769615	chr16:76597482-76597483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554319931	chr16:76597536-76597537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570813108	chr16:76597540-76597541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189372653	chr16:76597564-76597565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182020612	chr16:76597598-76597599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575521680	chr16:76597609-76597610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377671708	chr16:76597611-76597612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570729797	chr16:76597618-76597619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56170259	chr16:76597638-76597639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554407035	chr16:76597643-76597644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574301400	chr16:76597678-76597679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539990759	chr16:76597704-76597705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185265617	chr16:76597711-76597712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556281432	chr16:76597715-76597716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545818557	chr16:76597788-76597789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562324680	chr16:76597845-76597846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113029237	chr16:76597865-76597866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531306524	chr16:76597875-76597876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74025062	chr16:76597881-76597882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146260179	chr16:76597889-76597890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562329637	chr16:76597900-76597901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535606082	chr16:76597923-76597924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7200451	chr16:76597957-76597958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Lung cancer	24585490	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76554600-76599400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76588000-76599400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:76590000-76598600	Weak transcription	Brain Hippocampus Middle	brain

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