Variant report

Variant	nsv522374
Chromosome Location	chr16:52219942-52228745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:52225491..52226074-chr16:52946202..52947099,3	MCF-7	breast:
2	chr16:52225165..52225998-chr16:53056108..53056853,2	K562	blood:
3	chr16:52225285..52225970-chr16:52895207..52896160,2	MCF-7	breast:
4	chr16:52225163..52225916-chr16:52946199..52946919,2	MCF-7	breast:
5	chr16:52225598..52226132-chr16:52946181..52946968,2	K562	blood:
6	chr16:52101791..52102576-chr16:52225119..52226029,2	MCF-7	breast:

Extended variants
information (count: 161 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1191205	chr16:52219942-52219943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557070814	chr16:52219989-52219990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573753497	chr16:52220053-52220054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572602395	chr16:52220065-52220066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542896264	chr16:52220069-52220070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185727980	chr16:52220082-52220083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2540691	chr16:52220083-52220084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1211507	chr16:52220090-52220091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191273406	chr16:52220096-52220097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2540692	chr16:52220105-52220106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145383606	chr16:52220142-52220143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386790750	chr16:52220143-52220144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115651999	chr16:52220144-52220145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116129083	chr16:52220145-52220146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531176211	chr16:52220183-52220184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544811558	chr16:52220192-52220193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529331351	chr16:52220229-52220230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529768712	chr16:52220233-52220234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182645059	chr16:52220242-52220243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532241043	chr16:52220315-52220316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551076676	chr16:52220333-52220334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547298863	chr16:52220346-52220347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552475424	chr16:52220364-52220365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147210262	chr16:52220368-52220369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537656394	chr16:52220391-52220392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35057755	chr16:52223401-52223402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs3095561	chr16:52223432-52223433	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543647891	chr16:52223434-52223435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563436097	chr16:52223437-52223438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573861747	chr16:52223443-52223444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569387286	chr16:52223476-52223477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150316777	chr16:52223509-52223510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114918962	chr16:52223579-52223580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs74017247	chr16:52223597-52223598	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143588070	chr16:52223664-52223665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs377292592	chr16:52223666-52223667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564442058	chr16:52223676-52223677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs1362426	chr16:52223695-52223696	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549978404	chr16:52223699-52223700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569950867	chr16:52223729-52223730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs536025815	chr16:52223735-52223736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548853222	chr16:52223741-52223742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550299220	chr16:52223744-52223745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182961082	chr16:52223745-52223746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145943302	chr16:52223851-52223852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs557742553	chr16:52223902-52223903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs3095560	chr16:52223922-52223923	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144547135	chr16:52223943-52223944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142873570	chr16:52223989-52223990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374456157	chr16:52224012-52224013	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Retinoblastoma	19183342	CNVD
Myelofibrosis	22110671	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52219600-52220400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:52219800-52220200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:52223400-52225200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:52225400-52225600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr16:52225400-52225600	Enhancers	Liver	Liver
6	chr16:52225600-52226200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:52225600-52226400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr16:52225600-52226600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:52225600-52226600	Weak transcription	Liver	Liver
10	chr16:52225800-52226200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr16:52225800-52226200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:52225800-52226200	Enhancers	Stomach Mucosa	stomach
13	chr16:52225800-52226400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:52225800-52226600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr16:52226200-52226400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:52226200-52226600	Enhancers	Fetal Brain Male	brain
17	chr16:52226200-52227200	Weak transcription	Stomach Mucosa	stomach
18	chr16:52226600-52227600	Enhancers	Liver	Liver
19	chr16:52227000-52227600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:52227200-52227400	Enhancers	Stomach Mucosa	stomach
21	chr16:52227200-52227600	Enhancers	HepG2	liver

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