Variant report

Variant	nsv521087
Chromosome Location	chr16:80379730-80381924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2654468	chr16:80379730-80379731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115526064	chr16:80379798-80379799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558261177	chr16:80379808-80379809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386792758	chr16:80379812-80379813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2679305	chr16:80379813-80379814	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559798180	chr16:80379830-80379831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532579649	chr16:80379850-80379851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541996321	chr16:80379851-80379852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563953033	chr16:80379853-80379854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530898828	chr16:80379863-80379864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185963140	chr16:80379865-80379866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564428840	chr16:80379879-80379880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528467010	chr16:80379918-80379919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547032673	chr16:80379946-80379947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147687120	chr16:80379951-80379952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565466214	chr16:80379963-80379964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530047932	chr16:80379999-80380000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373014961	chr16:80380024-80380025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569875705	chr16:80380049-80380050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375878761	chr16:80380079-80380080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552324873	chr16:80380110-80380111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572501405	chr16:80380127-80380128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113593783	chr16:80380136-80380137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570224990	chr16:80380146-80380147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568767346	chr16:80380152-80380153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552576943	chr16:80380153-80380154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12922395	chr16:80380207-80380208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542549450	chr16:80380224-80380225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557378840	chr16:80380226-80380227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191047048	chr16:80380237-80380238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546103732	chr16:80380270-80380271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564570565	chr16:80380295-80380296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534278532	chr16:80380297-80380298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67266297	chr16:80380298-80380299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200923712	chr16:80380314-80380315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367922337	chr16:80380315-80380316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34940281	chr16:80380323-80380324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530142648	chr16:80380326-80380327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146990155	chr16:80380371-80380372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528632053	chr16:80380376-80380377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540612857	chr16:80380377-80380378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562113899	chr16:80380422-80380423	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147603331	chr16:80380442-80380443	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548426647	chr16:80380463-80380464	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550179430	chr16:80380515-80380516	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569872083	chr16:80380535-80380536	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530695430	chr16:80380542-80380543	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73581478	chr16:80380554-80380555	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570188138	chr16:80380559-80380560	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181798627	chr16:80380566-80380567	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80378800-80381000	Enhancers	Fetal Stomach	stomach
2	chr16:80379600-80379800	Enhancers	Fetal Muscle Trunk	muscle
3	chr16:80379600-80379800	Enhancers	Ovary	ovary
4	chr16:80379600-80380000	Enhancers	Fetal Lung	lung
5	chr16:80379600-80380400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:80379600-80380600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:80379600-80380600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80379600-80380800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:80379600-80380800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:80379600-80380800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:80379600-80380800	Enhancers	HSMMtube	muscle
12	chr16:80379600-80381000	Enhancers	Fetal Muscle Leg	muscle
13	chr16:80379600-80381000	Enhancers	Osteobl	bone
14	chr16:80379600-80382000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:80379800-80380200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:80379800-80380600	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:80379800-80380800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:80379800-80380800	Enhancers	NHDF-Ad	bronchial
19	chr16:80379800-80381000	Enhancers	HSMM	muscle
20	chr16:80379800-80381600	Weak transcription	Ovary	ovary
21	chr16:80379800-80381800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:80380200-80380600	Enhancers	Fetal Lung	lung
23	chr16:80380400-80380800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:80380800-80382000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:80380800-80382000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:80380800-80383600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:80381000-80381400	Weak transcription	Fetal Stomach	stomach
28	chr16:80381000-80381400	Weak transcription	Osteobl	bone
29	chr16:80381400-80381800	Enhancers	Osteobl	bone
30	chr16:80381400-80382200	Enhancers	Brain Germinal Matrix	brain
31	chr16:80381400-80382400	Enhancers	Brain Hippocampus Middle	brain
32	chr16:80381400-80383600	Enhancers	Fetal Stomach	stomach
33	chr16:80381600-80382200	Enhancers	Ovary	ovary
34	chr16:80381600-80382400	Enhancers	Fetal Muscle Leg	muscle
35	chr16:80381800-80382000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:80381800-80382000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:80381800-80382000	Enhancers	Duodenum Mucosa	Duodenum
38	chr16:80381800-80382200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr16:80381800-80382200	Enhancers	Adipose Nuclei	Adipose
40	chr16:80381800-80382200	Active TSS	Rectal Smooth Muscle	rectum
41	chr16:80381800-80382200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr16:80381800-80382200	Enhancers	Spleen	Spleen
43	chr16:80381800-80382400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr16:80381800-80382400	Enhancers	Fetal Muscle Trunk	muscle
45	chr16:80381800-80382400	Enhancers	Lung	lung
46	chr16:80381800-80382600	Enhancers	Liver	Liver
47	chr16:80381800-80383200	Enhancers	Fetal Lung	lung

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