Variant report

Variant	nsv573307
Chromosome Location	chr16:80975540-80982040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
2	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
3	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
4	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:

Extended variants
information (count: 335 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7199318	chr16:80975540-80975541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547911350	chr16:80975541-80975542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577870279	chr16:80975549-80975550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115785492	chr16:80975559-80975560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555113655	chr16:80975591-80975592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150900440	chr16:80975612-80975613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537331546	chr16:80975621-80975622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139425145	chr16:80975624-80975625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192083722	chr16:80975633-80975634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540577025	chr16:80975639-80975640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552702748	chr16:80975682-80975683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368586548	chr16:80975690-80975691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574439957	chr16:80975702-80975703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144371002	chr16:80975729-80975730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146610964	chr16:80975731-80975732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73586646	chr16:80975776-80975777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182771988	chr16:80975803-80975804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564421857	chr16:80975804-80975805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528401357	chr16:80975807-80975808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188060233	chr16:80975822-80975823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192843387	chr16:80975828-80975829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62054215	chr16:80975836-80975837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs184382242	chr16:80975847-80975848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577128997	chr16:80975871-80975872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570219808	chr16:80975938-80975939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189270775	chr16:80975953-80975954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552355552	chr16:80975974-80975975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192689431	chr16:80975986-80975987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535000763	chr16:80975987-80975988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552905903	chr16:80975999-80976000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574377758	chr16:80976005-80976006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546163164	chr16:80976010-80976011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535520146	chr16:80976043-80976044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184649022	chr16:80976075-80976076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575508157	chr16:80976109-80976110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143697248	chr16:80976127-80976128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145784380	chr16:80976194-80976195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573206092	chr16:80976232-80976233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189048159	chr16:80976248-80976249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559714803	chr16:80976261-80976262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530005348	chr16:80976263-80976264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115261705	chr16:80976277-80976278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563488937	chr16:80976302-80976303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372551263	chr16:80976319-80976320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530903505	chr16:80976320-80976321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181611701	chr16:80976325-80976326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186839309	chr16:80976353-80976354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528380282	chr16:80976383-80976384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541760883	chr16:80976407-80976408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374759282	chr16:80976422-80976423	Weak 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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80972800-80982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:80974800-80986600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:80979400-80979800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80979800-80980400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:80980000-80980200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:80980200-80980600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:80980200-80981000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:80980400-80980600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:80980600-80981000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:80980600-80982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:80981000-80981200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:80981000-80981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:80981200-80982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:80981200-80983000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:80981200-80983400	Enhancers	Hela-S3	cervix
16	chr16:80981400-80981800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr16:80981400-80981800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:80981400-80982400	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:80981400-80982400	Enhancers	Brain Hippocampus Middle	brain
20	chr16:80981400-80983000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:80981600-80982400	Enhancers	Brain Angular Gyrus	brain
22	chr16:80981600-80983000	Enhancers	Esophagus	oesophagus
23	chr16:80981600-80983200	Enhancers	Brain Anterior Caudate	brain
24	chr16:80981600-80983200	Enhancers	Brain Substantia Nigra	brain
25	chr16:80981800-80982800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:80981800-80982800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:80981800-80984600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:80982000-80982600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:80982000-80983200	Enhancers	HUVEC	blood vessel

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