Variant report

Variant	esv20462
Chromosome Location	chr16:82466394-82466986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558989860	chr16:82466397-82466398	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs76921884	chr16:82466401-82466402	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs74030777	chr16:82466408-82466409	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569595446	chr16:82466424-82466425	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs562251677	chr16:82466439-82466440	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs74030778	chr16:82466469-82466470	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541670006	chr16:82466477-82466478	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545709078	chr16:82466481-82466482	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs149460766	chr16:82466493-82466494	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs539204941	chr16:82466496-82466497	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs554418246	chr16:82466531-82466532	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs375750632	chr16:82466536-82466537	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs73589796	chr16:82466560-82466561	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82465600-82466400	Active TSS	Brain Cingulate Gyrus	brain
2	chr16:82465600-82466400	Active TSS	Brain Hippocampus Middle	brain
3	chr16:82465600-82466400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr16:82465800-82466400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:82465800-82466400	Active TSS	Brain Substantia Nigra	brain
6	chr16:82465800-82466400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr16:82466000-82466400	Active TSS	Brain Angular Gyrus	brain
8	chr16:82466000-82466400	Active TSS	Brain Anterior Caudate	brain
9	chr16:82466200-82466400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:82466200-82466400	Active TSS	Aorta	Aorta
11	chr16:82466200-82466600	Bivalent Enhancer	HSMMtube	muscle
12	chr16:82466400-82466600	Enhancers	Brain Hippocampus Middle	brain
13	chr16:82466400-82466600	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links