Variant report

Variant	nsv527134
Chromosome Location	chr16:80456403-80456684
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	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
2	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514496	chr16:80456403-80456404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553890618	chr16:80456412-80456413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377479597	chr16:80456429-80456430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139071672	chr16:80456442-80456443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8057483	chr16:80456443-80456444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs8063777	chr16:80456448-80456449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563050821	chr16:80456451-80456452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548457550	chr16:80456455-80456456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72628269	chr16:80456469-80456470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537217246	chr16:80456494-80456495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8059443	chr16:80456499-80456500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141559892	chr16:80456512-80456513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76627794	chr16:80456558-80456559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200602530	chr16:80456561-80456562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376914342	chr16:80456576-80456577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192043310	chr16:80456581-80456582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574873393	chr16:80456587-80456588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35898044	chr16:80456591-80456592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571714691	chr16:80456592-80456593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576190298	chr16:80456620-80456621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182883793	chr16:80456626-80456627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565080491	chr16:80456627-80456628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377122997	chr16:80456651-80456652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576910355	chr16:80456659-80456660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17814576	chr16:80456664-80456665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548086987	chr16:80456670-80456671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10514497	chr16:80456684-80456685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80453400-80459400	Weak transcription	HepG2	liver

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