Variant report

Variant	nsv523459
Chromosome Location	chr16:80803990-80811937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80808235..80810529-chr16:80811249..80813336,2	MCF-7	breast:
2	chr16:80808235..80810529-chr16:80811249..80813336,2	MCF-7	breast:
3	chr16:80795037..80797883-chr16:80807258..80809705,2	MCF-7	breast:
4	chr16:80807863..80810063-chr16:80836867..80839644,2	MCF-7	breast:
5	chr16:80753856..80755452-chr16:80810403..80813281,2	MCF-7	breast:
6	chr16:80809291..80811612-chr16:80817355..80819809,2	MCF-7	breast:
7	chr16:80801378..80804737-chr16:80832241..80835034,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166446	chromatin interactions

Extended variants
information (count: 423 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:423 , 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	rs13331075	chr16:80803990-80803991	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551827521	chr16:80804009-80804010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550897346	chr16:80804010-80804011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147800633	chr16:80804017-80804018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376112583	chr16:80804024-80804025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569419445	chr16:80804031-80804032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs180896612	chr16:80804079-80804080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534449147	chr16:80804087-80804088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140651229	chr16:80804089-80804090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150483979	chr16:80804120-80804121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138306140	chr16:80804152-80804153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557229572	chr16:80804153-80804154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370398056	chr16:80804169-80804170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149142994	chr16:80804278-80804279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543857170	chr16:80804285-80804286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184958510	chr16:80804299-80804300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373248919	chr16:80804321-80804322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189616352	chr16:80804326-80804327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs377329728	chr16:80804331-80804332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373386268	chr16:80804364-80804365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530327862	chr16:80804392-80804393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542124580	chr16:80804415-80804416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564032398	chr16:80804448-80804449	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200656249	chr16:80804450-80804451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570170795	chr16:80804451-80804452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531137852	chr16:80804460-80804461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12102950	chr16:80804514-80804515	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200408604	chr16:80804515-80804516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370660592	chr16:80804519-80804520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77224968	chr16:80804526-80804527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs139168524	chr16:80804556-80804557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181985110	chr16:80804585-80804586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs571990405	chr16:80804593-80804594	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568120103	chr16:80804615-80804616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375551508	chr16:80804628-80804629	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535652267	chr16:80804633-80804634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368575045	chr16:80804661-80804662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550571559	chr16:80804662-80804663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569147910	chr16:80804695-80804696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539778423	chr16:80804716-80804717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370395065	chr16:80804734-80804735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs558982341	chr16:80804761-80804762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187341337	chr16:80804764-80804765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76652109	chr16:80804769-80804770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553449635	chr16:80804770-80804771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574551531	chr16:80804778-80804779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113555593	chr16:80804782-80804783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs13335834	chr16:80804794-80804795	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372052684	chr16:80804798-80804799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375123800	chr16:80804818-80804819	Weak transcription ZNF genes & repeats	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
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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80802000-80806200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:80803000-80804000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:80803000-80804000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:80803200-80804000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:80803200-80804200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr16:80803400-80805600	Weak transcription	Hela-S3	cervix
7	chr16:80803600-80805000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:80803600-80807800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:80803800-80812200	Weak transcription	HUVEC	blood vessel
10	chr16:80805000-80805200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
11	chr16:80805600-80807800	Strong transcription	Hela-S3	cervix
12	chr16:80807800-80812000	Weak transcription	Hela-S3	cervix

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