Variant report

Variant	nsv573350
Chromosome Location	chr16:81181180-81187021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81078751..81080848-chr16:81181095..81182686,2	K562	blood:
2	chr16:81181423..81183511-chr16:81191451..81193447,2	MCF-7	breast:
3	chr16:81177178..81179005-chr16:81180841..81182912,2	MCF-7	breast:

Extended variants
information (count: 443 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7194509	chr16:81181180-81181181	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140441323	chr16:81181193-81181194	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559210914	chr16:81181207-81181208	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28701636	chr16:81181213-81181214	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs28438835	chr16:81181214-81181215	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189299561	chr16:81181250-81181251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574394583	chr16:81181279-81181280	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541784370	chr16:81181284-81181285	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573821364	chr16:81181285-81181286	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374382687	chr16:81181306-81181307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142059281	chr16:81181312-81181313	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112769832	chr16:81181341-81181342	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193203389	chr16:81181356-81181357	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563940788	chr16:81181365-81181366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185091575	chr16:81181371-81181372	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546620140	chr16:81181373-81181374	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568341436	chr16:81181383-81181384	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151150423	chr16:81181389-81181390	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576229082	chr16:81181406-81181407	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12103301	chr16:81181423-81181424	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570034445	chr16:81181434-81181435	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12102728	chr16:81181436-81181437	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114819581	chr16:81181438-81181439	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12102691	chr16:81181460-81181461	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140594513	chr16:81181463-81181464	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189993927	chr16:81181468-81181469	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4889246	chr16:81181470-81181471	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150064970	chr16:81181472-81181473	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542083984	chr16:81181481-81181482	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556560699	chr16:81181486-81181487	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528377158	chr16:81181492-81181493	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12103303	chr16:81181497-81181498	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs74030552	chr16:81181511-81181512	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146598027	chr16:81181557-81181558	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12102293	chr16:81181607-81181608	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4889247	chr16:81181617-81181618	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9929253	chr16:81181641-81181642	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529206465	chr16:81181642-81181643	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550868285	chr16:81181646-81181647	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9921666	chr16:81181669-81181670	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373666354	chr16:81181696-81181697	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552750086	chr16:81181743-81181744	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368755876	chr16:81181752-81181753	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200367796	chr16:81181753-81181754	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370996196	chr16:81181774-81181775	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9921748	chr16:81181783-81181784	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112815607	chr16:81181785-81181786	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368366647	chr16:81181789-81181790	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372298848	chr16:81181804-81181805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375300640	chr16:81181806-81181807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
3	chr16:81171200-81193400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr16:81171200-81206400	Weak transcription	Ovary	ovary
5	chr16:81171400-81185400	Weak transcription	Brain Anterior Caudate	brain
6	chr16:81171600-81185400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:81171600-81192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:81173600-81182800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:81175200-81185200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:81175200-81185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:81175400-81185000	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:81175400-81185000	Weak transcription	Brain Substantia Nigra	brain
13	chr16:81175400-81201600	Weak transcription	Left Ventricle	heart
14	chr16:81176600-81181800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:81177000-81189400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:81178600-81185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:81179800-81182400	Strong transcription	Adipose Nuclei	Adipose
18	chr16:81180400-81185200	Weak transcription	Brain Angular Gyrus	brain
19	chr16:81181800-81185000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:81182400-81183000	Weak transcription	Adipose Nuclei	Adipose
21	chr16:81183000-81183600	Strong transcription	Adipose Nuclei	Adipose
22	chr16:81183600-81185000	Weak transcription	Adipose Nuclei	Adipose
23	chr16:81185000-81185400	Enhancers	Brain Hippocampus Middle	brain
24	chr16:81185000-81185600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:81185000-81185600	Bivalent Enhancer	HepG2	liver
26	chr16:81185000-81185800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:81185000-81186200	Enhancers	Brain Substantia Nigra	brain
28	chr16:81185000-81188000	Strong transcription	Adipose Nuclei	Adipose
29	chr16:81185200-81185400	Enhancers	Spleen	Spleen
30	chr16:81185200-81185600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:81185200-81186000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr16:81185200-81186000	Enhancers	Brain Angular Gyrus	brain
33	chr16:81185200-81186000	Enhancers	HMEC	breast
34	chr16:81185400-81185600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:81185400-81185600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr16:81185400-81185600	Enhancers	Hela-S3	cervix
37	chr16:81185400-81185800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:81185400-81185800	Active TSS	Spleen	Spleen
39	chr16:81185400-81186000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr16:81185400-81186000	Enhancers	Brain Cingulate Gyrus	brain
41	chr16:81185400-81186000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr16:81185600-81186000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr16:81185600-81186000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr16:81185600-81186000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:81185600-81193200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:81186000-81186400	Weak transcription	Spleen	Spleen
47	chr16:81186000-81191400	Weak transcription	Brain Angular Gyrus	brain
48	chr16:81186000-81191400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr16:81186000-81193200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:81186200-81191200	Weak transcription	Brain Substantia Nigra	brain

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