Variant report

Variant	esv3342674
Chromosome Location	chr16:80154205-80154705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148233921	chr16:80154235-80154236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193170857	chr16:80154292-80154293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35891098	chr16:80154304-80154305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141449877	chr16:80154316-80154317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529461108	chr16:80154368-80154369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184200521	chr16:80154394-80154395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372315189	chr16:80154487-80154488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79387198	chr16:80154493-80154494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16952449	chr16:80154506-80154507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557759561	chr16:80154516-80154517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9940069	chr16:80154520-80154521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114360960	chr16:80154554-80154555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555578726	chr16:80154582-80154583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534409363	chr16:80154624-80154625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147001390	chr16:80154652-80154653	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369175826	chr16:80154675-80154676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541665655	chr16:80154677-80154678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557156880	chr16:80154694-80154695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:80148400-80156000	Weak transcription	Ovary	ovary
3	chr16:80148600-80155600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80151800-80154600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80151800-80154600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:80151800-80159600	Weak transcription	Adipose Nuclei	Adipose
7	chr16:80152000-80155000	Weak transcription	Fetal Lung	lung
8	chr16:80152200-80154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:80152200-80154400	Weak transcription	NHEK	skin
10	chr16:80153800-80155400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:80154400-80154800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:80154400-80155000	Enhancers	NHEK	skin
13	chr16:80154400-80155600	Enhancers	HMEC	breast
14	chr16:80154400-80156800	Enhancers	Brain Germinal Matrix	brain
15	chr16:80154600-80154800	Enhancers	Psoas Muscle	Psoas
16	chr16:80154600-80155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:80154600-80155400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:80154600-80155400	Enhancers	Esophagus	oesophagus
19	chr16:80154600-80155400	Enhancers	Fetal Muscle Leg	muscle

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