Variant report

Variant	nsv977885
Chromosome Location	chr16:59391944-59403123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:59390555..59392761-chr16:59393637..59395380,2	K562	blood:
2	chr16:59388705..59390354-chr16:59392227..59393861,2	K562	blood:
3	chr16:59390555..59392761-chr16:59393637..59395380,2	K562	blood:

Extended variants
information (count: 310 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:310 , 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	rs9939608	chr16:59392020-59392021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559384340	chr16:59392042-59392043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552866066	chr16:59392093-59392094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574555120	chr16:59392132-59392133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs29861	chr16:59392147-59392148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557285637	chr16:59392237-59392238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559531949	chr16:59392256-59392257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534013134	chr16:59392338-59392339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545770696	chr16:59392348-59392349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564185458	chr16:59392358-59392359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552297753	chr16:59392364-59392365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528147427	chr16:59392477-59392478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540299818	chr16:59392478-59392479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548148506	chr16:59392479-59392480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559729593	chr16:59392536-59392537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11862397	chr16:59392551-59392552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548516116	chr16:59392564-59392565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143552276	chr16:59392569-59392570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530821028	chr16:59392702-59392703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552120806	chr16:59392716-59392717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570948661	chr16:59392738-59392739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77100729	chr16:59392842-59392843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78567379	chr16:59392849-59392850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568203958	chr16:59392891-59392892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188181555	chr16:59392929-59392930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143070998	chr16:59392933-59392934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557296177	chr16:59392950-59392951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575575384	chr16:59393008-59393009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550333392	chr16:59393028-59393029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539461216	chr16:59393045-59393046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111680408	chr16:59393127-59393128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557494956	chr16:59393131-59393132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193199198	chr16:59393201-59393202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74020444	chr16:59393229-59393230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184707089	chr16:59393279-59393280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574692899	chr16:59393283-59393284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541975894	chr16:59393305-59393306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188675256	chr16:59393364-59393365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531084393	chr16:59393454-59393455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552433330	chr16:59393577-59393578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564359685	chr16:59393623-59393624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142653704	chr16:59393624-59393625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546826819	chr16:59393631-59393632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568494734	chr16:59393652-59393653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77201008	chr16:59393662-59393663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146040648	chr16:59393665-59393666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs8044360	chr16:59393690-59393691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528633511	chr16:59393827-59393828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139801909	chr16:59393842-59393843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113287917	chr16:59393843-59393844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59389600-59392000	Enhancers	K562	blood
2	chr16:59390600-59392000	Enhancers	A549	lung
3	chr16:59390800-59392000	Enhancers	Stomach Mucosa	stomach
4	chr16:59391000-59396200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:59396200-59396600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr16:59399800-59400600	Enhancers	A549	lung
7	chr16:59400200-59401600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr16:59400600-59401600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:59400600-59401600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:59400600-59404600	Weak transcription	A549	lung
11	chr16:59401800-59402600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr16:59401800-59402600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr16:59401800-59402600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr16:59401800-59402800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr16:59402000-59402600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:59402000-59403000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr16:59402600-59402800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr16:59402600-59403000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:59402600-59403600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:59402800-59403200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:59403000-59403400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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