Variant report

Variant	esv3313801
Chromosome Location	chr16:80976651-80981249
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	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
2	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:

Extended variants
information (count: 233 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151215432	chr16:80976670-80976671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541899763	chr16:80976680-80976681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141456378	chr16:80976734-80976735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372211487	chr16:80976735-80976736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374649768	chr16:80976738-80976739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547462451	chr16:80976754-80976755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199533731	chr16:80976756-80976757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71143662	chr16:80976773-80976774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367996022	chr16:80976774-80976775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530941476	chr16:80976780-80976781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552224972	chr16:80976840-80976841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564356325	chr16:80976843-80976844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77336552	chr16:80976886-80976887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189820192	chr16:80976893-80976894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183513838	chr16:80976907-80976908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369484044	chr16:80976951-80976952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529580344	chr16:80976967-80976968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550627869	chr16:80977020-80977021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568845712	chr16:80977086-80977087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146973545	chr16:80977111-80977112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186357738	chr16:80977126-80977127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138117946	chr16:80977132-80977133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62054235	chr16:80977137-80977138	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs75474903	chr16:80977146-80977147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143678094	chr16:80977176-80977177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60080014	chr16:80977181-80977182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556958296	chr16:80977212-80977213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57559804	chr16:80977230-80977231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs57790458	chr16:80977240-80977241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397939193	chr16:80977242-80977243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78005587	chr16:80977262-80977263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112570604	chr16:80977287-80977288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370854179	chr16:80977335-80977336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564193823	chr16:80977339-80977340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535327505	chr16:80977343-80977344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183488462	chr16:80977387-80977388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188495352	chr16:80977388-80977389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562291022	chr16:80977409-80977410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568623949	chr16:80977447-80977448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529585931	chr16:80977452-80977453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551265184	chr16:80977469-80977470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537655853	chr16:80977481-80977482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528082189	chr16:80977484-80977485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568882481	chr16:80977512-80977513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150111854	chr16:80977526-80977527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551395932	chr16:80977541-80977542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566488817	chr16:80977578-80977579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138547256	chr16:80977593-80977594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192709587	chr16:80977605-80977606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149239153	chr16:80977649-80977650	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80972800-80982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:80974800-80986600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:80979400-80979800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80979800-80980400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:80980000-80980200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:80980200-80980600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:80980200-80981000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:80980400-80980600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:80980600-80981000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:80980600-80982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:80981000-80981200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:80981000-80981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:80981200-80982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:80981200-80983000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:80981200-80983400	Enhancers	Hela-S3	cervix

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