Variant report

Variant	esv3382313
Chromosome Location	chr16:76714151-76717649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547545871	chr16:76714155-76714156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142608681	chr16:76714166-76714167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563639358	chr16:76714181-76714182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150645133	chr16:76714185-76714186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529241338	chr16:76714194-76714195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187956356	chr16:76714217-76714218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570017490	chr16:76714262-76714263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375581267	chr16:76714274-76714275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193214160	chr16:76714282-76714283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184368204	chr16:76714290-76714291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140062334	chr16:76714328-76714329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533992692	chr16:76714330-76714331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369636009	chr16:76714348-76714349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67520967	chr16:76714363-76714364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562583128	chr16:76714410-76714411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113766015	chr16:76714450-76714451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79681534	chr16:76714492-76714493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188058380	chr16:76714499-76714500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192275445	chr16:76714519-76714520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555923128	chr16:76714526-76714527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575985270	chr16:76714535-76714536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11149917	chr16:76714558-76714559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73616033	chr16:76714571-76714572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544889460	chr16:76714591-76714592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184110736	chr16:76714608-76714609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112256109	chr16:76714609-76714610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377133573	chr16:76714670-76714671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188458591	chr16:76714688-76714689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533284910	chr16:76714701-76714702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543889597	chr16:76714714-76714715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181608397	chr16:76714727-76714728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529293506	chr16:76714730-76714731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549073328	chr16:76714771-76714772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370611814	chr16:76714789-76714790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143593187	chr16:76714805-76714806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527562787	chr16:76714814-76714815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184210610	chr16:76714829-76714830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146774154	chr16:76714847-76714848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564353431	chr16:76714865-76714866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539203561	chr16:76714888-76714889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556224544	chr16:76714904-76714905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569611725	chr16:76714909-76714910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373393746	chr16:76714974-76714975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376929266	chr16:76714977-76714978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140500659	chr16:76714989-76714990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56317509	chr16:76714998-76714999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541310938	chr16:76715047-76715048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150073708	chr16:76715065-76715066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578122587	chr16:76715076-76715077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368570496	chr16:76715095-76715096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76696600-76714800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:76710800-76716400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:76714800-76715600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:76715600-76716600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:76716400-76716800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr16:76716400-76717800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr16:76716600-76716800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:76716600-76716800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr16:76716600-76717600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:76716600-76717800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:76716600-76718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr16:76716600-76718600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:76716800-76717000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:76716800-76717000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr16:76716800-76717000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr16:76716800-76717200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:76716800-76717400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr16:76717000-76717400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr16:76717000-76717400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr16:76717400-76717600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr16:76717400-76717600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr16:76717400-76718000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr16:76717400-76718200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr16:76717600-76717800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr16:76717600-76718200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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