Variant report

Variant	nsv1064438
Chromosome Location	chr16:82762729-82788901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82762397..82764526-chr16:82767820..82769912,2	MCF-7	breast:
2	chr16:82762397..82764526-chr16:82767820..82769912,2	MCF-7	breast:
3	chr16:82771591..82773606-chr16:82773856..82775987,2	MCF-7	breast:
4	chr16:82784687..82786214-chr16:82787764..82790062,2	K562	blood:
5	chr16:82758028..82760301-chr16:82761456..82763834,2	K562	blood:
6	chr16:82771591..82773606-chr16:82773856..82775987,2	MCF-7	breast:
7	chr16:82784687..82786214-chr16:82787764..82790062,2	K562	blood:

Extended variants
information (count: 1465 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4559899	chr16:82762729-82762730	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559621673	chr16:82762776-82762777	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187190391	chr16:82762872-82762873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117417812	chr16:82762880-82762881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539256175	chr16:82762885-82762886	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563904394	chr16:82762901-82762902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530937195	chr16:82762910-82762911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75758379	chr16:82762949-82762950	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564541296	chr16:82762953-82762954	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77272779	chr16:82762985-82762986	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73603152	chr16:82762986-82762987	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143226936	chr16:82763006-82763007	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529183705	chr16:82763026-82763027	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550528708	chr16:82763035-82763036	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147501485	chr16:82763037-82763038	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539210140	chr16:82763100-82763101	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557453202	chr16:82763106-82763107	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192068269	chr16:82763118-82763119	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8060593	chr16:82763153-82763154	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561522926	chr16:82763154-82763155	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1599537	chr16:82763177-82763178	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144032305	chr16:82763286-82763287	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554932181	chr16:82763307-82763308	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10438634	chr16:82763312-82763313	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542488371	chr16:82763350-82763351	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557307297	chr16:82763351-82763352	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113279991	chr16:82763354-82763355	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368437505	chr16:82763363-82763364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371914273	chr16:82763387-82763388	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575810712	chr16:82763395-82763396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546394805	chr16:82763401-82763402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554183544	chr16:82763410-82763411	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564578080	chr16:82763456-82763457	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528556120	chr16:82763487-82763488	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540673673	chr16:82763528-82763529	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139307737	chr16:82763554-82763555	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529205521	chr16:82763558-82763559	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550864704	chr16:82763560-82763561	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569026071	chr16:82763571-82763572	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149998749	chr16:82763596-82763597	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7206187	chr16:82763634-82763635	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566270236	chr16:82763666-82763667	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533638029	chr16:82763713-82763714	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144281106	chr16:82763780-82763781	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117379040	chr16:82763794-82763795	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148729625	chr16:82763814-82763815	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560042746	chr16:82763836-82763837	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8044520	chr16:82763838-82763839	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563539170	chr16:82763839-82763840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558376217	chr16:82763853-82763854	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82737600-82763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:82746400-82763000	Weak transcription	NH-A	brain
3	chr16:82749800-82768400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:82750200-82780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:82750600-82765800	Weak transcription	HSMMtube	muscle
6	chr16:82756200-82763200	Weak transcription	Left Ventricle	heart
7	chr16:82756800-82763200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:82760000-82763000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr16:82760400-82763400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:82760600-82763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82761000-82764200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:82761000-82764400	Strong transcription	HSMM	muscle
13	chr16:82761000-82764800	Strong transcription	HMEC	breast
14	chr16:82761400-82762800	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:82761400-82764000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:82761600-82763800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr16:82762000-82762800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:82762000-82773800	Weak transcription	NHEK	skin
19	chr16:82762200-82763200	ZNF genes & repeats	HUVEC	blood vessel
20	chr16:82762800-82763400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:82762800-82764400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr16:82763000-82763400	ZNF genes & repeats	NH-A	brain
23	chr16:82763200-82763600	ZNF genes & repeats	Left Ventricle	heart
24	chr16:82763200-82763600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr16:82763200-82763600	Weak transcription	HUVEC	blood vessel
26	chr16:82763400-82768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:82763400-82768600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:82763600-82765600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:82763600-82766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:82763600-82766600	Weak transcription	Left Ventricle	heart
31	chr16:82764000-82765000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:82764200-82764400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:82764200-82764800	Enhancers	Psoas Muscle	Psoas
34	chr16:82764400-82764600	Enhancers	NHDF-Ad	bronchial
35	chr16:82764400-82765200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr16:82764400-82765600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:82764400-82766600	Weak transcription	HSMM	muscle
38	chr16:82764600-82764800	Enhancers	Right Atrium	heart
39	chr16:82764600-82768600	Weak transcription	NHDF-Ad	bronchial
40	chr16:82764800-82766400	Weak transcription	Psoas Muscle	Psoas
41	chr16:82764800-82766400	Weak transcription	HMEC	breast
42	chr16:82764800-82767600	Weak transcription	Right Atrium	heart
43	chr16:82765000-82768600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:82765400-82765800	Enhancers	Aorta	Aorta
45	chr16:82765400-82768600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr16:82765600-82766400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:82765600-82768200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr16:82765800-82766600	Weak transcription	Aorta	Aorta
49	chr16:82765800-82767200	Enhancers	HSMMtube	muscle
50	chr16:82766000-82769000	Enhancers	Fetal Heart	heart

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