Variant report

Variant	esv3313383
Chromosome Location	chr16:65286239-65287632
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	chr16:65284590..65286307-chr16:65286570..65288207,2	MCF-7	breast:
2	chr16:65284590..65286307-chr16:65286570..65288207,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559381763	chr16:65286256-65286257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192439677	chr16:65286262-65286263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548042901	chr16:65286308-65286309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565366163	chr16:65286351-65286352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567765482	chr16:65286400-65286401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530111349	chr16:65286403-65286404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549843409	chr16:65286404-65286405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569750672	chr16:65286415-65286416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538638151	chr16:65286426-65286427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558870317	chr16:65286461-65286462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566200981	chr16:65286467-65286468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535235257	chr16:65286492-65286493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532752566	chr16:65286526-65286527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534824186	chr16:65286539-65286540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183956770	chr16:65286562-65286563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554835229	chr16:65286615-65286616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138820209	chr16:65286709-65286710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35234205	chr16:65286720-65286721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543574724	chr16:65286744-65286745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557081292	chr16:65286767-65286768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554753506	chr16:65286789-65286790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73574421	chr16:65286852-65286853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7194801	chr16:65286870-65286871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543393237	chr16:65287013-65287014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35514197	chr16:65287132-65287133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528342404	chr16:65287178-65287179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542031491	chr16:65287225-65287226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76117821	chr16:65287273-65287274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530604915	chr16:65287281-65287282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137994611	chr16:65287301-65287302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187770933	chr16:65287324-65287325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532380463	chr16:65287360-65287361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370149267	chr16:65287369-65287370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192500911	chr16:65287387-65287388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12923125	chr16:65287388-65287389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530569138	chr16:65287427-65287428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555226089	chr16:65287493-65287494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568599440	chr16:65287494-65287495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537637115	chr16:65287509-65287510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376906089	chr16:65287527-65287528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546061742	chr16:65287559-65287560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576974785	chr16:65287582-65287583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539458859	chr16:65287587-65287588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65284200-65291600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:65286000-65286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:65286000-65287200	Weak transcription	Stomach Mucosa	stomach
4	chr16:65287400-65287600	Enhancers	Stomach Mucosa	stomach

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