Variant report

Variant	nsv573126
Chromosome Location	chr16:77660597-77680750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77641802..77644551-chr16:77659308..77662282,2	MCF-7	breast:
2	chr16:77652245..77655116-chr16:77670753..77672397,2	MCF-7	breast:
3	chr16:77657528..77659608-chr16:77662783..77664358,2	MCF-7	breast:
4	chr16:77672608..77676304-chr16:77676785..77680142,3	MCF-7	breast:
5	chr16:77675283..77677201-chr16:77679287..77681153,2	MCF-7	breast:
6	chr16:77632750..77638052-chr16:77677805..77683228,7	MCF-7	breast:
7	chr16:77665200..77668006-chr16:77670083..77672540,2	MCF-7	breast:
8	chr16:77672608..77676304-chr16:77676785..77680142,3	MCF-7	breast:
9	chr16:77667748..77670064-chr16:77674734..77677404,2	MCF-7	breast:
10	chr16:77667748..77670064-chr16:77674734..77677404,2	MCF-7	breast:
11	chr16:77675283..77677201-chr16:77679287..77681153,2	MCF-7	breast:
12	chr16:77666135..77671025-chr16:77671164..77674266,4	K562	blood:
13	chr16:77666135..77671025-chr16:77671164..77674266,4	K562	blood:
14	chr16:77678330..77681247-chr16:77683040..77686814,3	K562	blood:
15	chr16:77665200..77668006-chr16:77670083..77672540,2	MCF-7	breast:

No data

Extended variants
information (count: 497 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76348499	chr16:77665827-77665828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs193005995	chr16:77665829-77665830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs142906430	chr16:77665842-77665843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs151174707	chr16:77665852-77665853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs139146981	chr16:77665863-77665864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184718013	chr16:77665882-77665883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568521762	chr16:77665920-77665921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190378827	chr16:77665924-77665925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs35935074	chr16:77665941-77665942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547809125	chr16:77665962-77665963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs143992755	chr16:77666005-77666006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146419095	chr16:77666009-77666010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556563740	chr16:77666011-77666012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150161084	chr16:77666019-77666020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535624045	chr16:77666025-77666026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530696285	chr16:77666039-77666040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535443235	chr16:77666122-77666123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145582573	chr16:77666132-77666133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148880548	chr16:77666182-77666183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577550202	chr16:77666195-77666196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371681702	chr16:77666199-77666200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374531317	chr16:77666242-77666243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192066977	chr16:77666255-77666256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74399796	chr16:77666260-77666261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397789117	chr16:77666262-77666263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398058397	chr16:77666263-77666264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184421758	chr16:77666281-77666282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7202989	chr16:77666294-77666295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542804735	chr16:77666306-77666307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559576960	chr16:77666318-77666319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527831673	chr16:77666352-77666353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367651012	chr16:77666377-77666378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189526460	chr16:77666387-77666388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564538165	chr16:77666395-77666396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542893271	chr16:77666411-77666412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181797286	chr16:77666427-77666428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186087306	chr16:77666438-77666439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138403073	chr16:77666487-77666488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569966887	chr16:77666495-77666496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9940803	chr16:77666496-77666497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143909163	chr16:77666544-77666545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189147386	chr16:77666588-77666589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181561086	chr16:77666607-77666608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs207476189	chr16:77666665-77666666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557537547	chr16:77666718-77666719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577590534	chr16:77666735-77666736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544762813	chr16:77666747-77666748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564778042	chr16:77666750-77666751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557233520	chr16:77666752-77666753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574022592	chr16:77666757-77666758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77665800-77666000	ZNF genes & repeats	Aorta	Aorta
2	chr16:77666000-77671400	Weak transcription	Aorta	Aorta
3	chr16:77667600-77673400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:77668800-77671600	Weak transcription	Fetal Heart	heart
5	chr16:77670400-77670600	Enhancers	Fetal Muscle Leg	muscle
6	chr16:77670600-77671600	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:77671200-77672600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:77671400-77671600	Enhancers	Aorta	Aorta
9	chr16:77671600-77672000	Flanking Active TSS	Aorta	Aorta
10	chr16:77671600-77672600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:77671600-77672600	Enhancers	Fetal Heart	heart
12	chr16:77671600-77672600	Enhancers	Fetal Lung	lung
13	chr16:77671600-77673000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr16:77671600-77673000	Enhancers	Fetal Muscle Leg	muscle
15	chr16:77671800-77672200	Enhancers	Fetal Kidney	kidney
16	chr16:77671800-77672200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr16:77671800-77672400	Enhancers	Fetal Stomach	stomach
18	chr16:77672000-77672200	Enhancers	Aorta	Aorta
19	chr16:77672000-77672600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:77672200-77672400	Flanking Active TSS	Aorta	Aorta
21	chr16:77672200-77672600	Active TSS	Fetal Brain Male	brain
22	chr16:77672400-77672800	Enhancers	Aorta	Aorta
23	chr16:77673400-77673600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:77676800-77677000	Enhancers	Fetal Lung	lung
25	chr16:77679200-77680600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:77679600-77679800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:77679800-77681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:77680400-77682600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr16:77680600-77681000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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