Variant report

Variant	nsv974737
Chromosome Location	chr16:47126729-47141191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47136112..47138156-chr16:47139156..47141395,2	K562	blood:
2	chr16:47136112..47138156-chr16:47139156..47141395,2	K562	blood:

Extended variants
information (count: 509 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142103164	chr16:47126768-47126769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186145695	chr16:47126796-47126797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541142503	chr16:47126943-47126944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151148972	chr16:47126947-47126948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567275999	chr16:47126959-47126960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533330250	chr16:47126975-47126976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115968371	chr16:47126979-47126980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371559642	chr16:47126996-47126997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112534674	chr16:47127003-47127004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35733733	chr16:47127027-47127028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34902681	chr16:47127075-47127076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530821474	chr16:47127079-47127080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537803492	chr16:47127127-47127128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377315549	chr16:47127134-47127135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549198778	chr16:47127185-47127186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556182300	chr16:47127200-47127201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567102767	chr16:47127236-47127237	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191821141	chr16:47127287-47127288	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571952048	chr16:47127331-47127332	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534745676	chr16:47127337-47127338	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546352535	chr16:47127359-47127360	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570929071	chr16:47127360-47127361	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538206273	chr16:47127376-47127377	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs116619314	chr16:47127377-47127378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576376333	chr16:47127381-47127382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537337188	chr16:47127391-47127392	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538939067	chr16:47127402-47127403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34653290	chr16:47127404-47127405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141088469	chr16:47127414-47127415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554376788	chr16:47127471-47127472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7194880	chr16:47127533-47127534	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572511662	chr16:47127542-47127543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559844023	chr16:47127578-47127579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536367227	chr16:47127648-47127649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147116803	chr16:47127678-47127679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545462495	chr16:47127699-47127700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563661944	chr16:47127740-47127741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530866736	chr16:47127753-47127754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138513272	chr16:47127807-47127808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554596773	chr16:47127808-47127809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561160378	chr16:47127820-47127821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116390416	chr16:47127862-47127863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546687993	chr16:47127865-47127866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528712069	chr16:47127868-47127869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369875039	chr16:47127900-47127901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184058055	chr16:47127916-47127917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576036695	chr16:47127933-47127934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543458668	chr16:47127942-47127943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550202823	chr16:47127974-47127975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568498341	chr16:47128008-47128009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Acute lymphoblastic leukemia	22237106	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
Acute lymphoblastic leukemia	21339820	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
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	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
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47107400-47138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:47108000-47145600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:47108200-47130000	Weak transcription	Brain Germinal Matrix	brain
4	chr16:47110800-47158000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr16:47111000-47131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:47112000-47132000	Weak transcription	Esophagus	oesophagus
7	chr16:47112000-47144800	Weak transcription	Spleen	Spleen
8	chr16:47113200-47142200	Weak transcription	Hela-S3	cervix
9	chr16:47113400-47141000	Weak transcription	NH-A	brain
10	chr16:47114000-47141000	Weak transcription	HSMM	muscle
11	chr16:47114200-47127200	Weak transcription	K562	blood
12	chr16:47114400-47130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:47114400-47139800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:47114600-47138600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:47114600-47140800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:47114600-47147000	Weak transcription	Brain Anterior Caudate	brain
17	chr16:47114800-47132000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr16:47115400-47163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:47115600-47131000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:47115800-47130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:47117600-47131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:47117600-47141200	Weak transcription	NHEK	skin
23	chr16:47117600-47170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:47118400-47165000	Weak transcription	Fetal Brain Male	brain
25	chr16:47118600-47139600	Weak transcription	HMEC	breast
26	chr16:47119400-47139800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr16:47120400-47127800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:47120400-47128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:47120600-47136600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr16:47120800-47137400	Weak transcription	GM12878-XiMat	blood
31	chr16:47123000-47127800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:47123600-47136800	Weak transcription	A549	lung
33	chr16:47123600-47137000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:47125400-47129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:47125600-47131800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:47126000-47126800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:47126000-47128000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:47126000-47128000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr16:47126200-47127600	Strong transcription	Fetal Brain Female	brain
40	chr16:47126200-47129400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:47126600-47127400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:47126800-47130600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:47127200-47127400	ZNF genes & repeats	K562	blood
44	chr16:47127400-47130600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:47127400-47139400	Weak transcription	K562	blood
46	chr16:47127600-47130400	Weak transcription	Fetal Brain Female	brain
47	chr16:47127800-47128200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:47127800-47128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:47128000-47130600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:47128000-47139800	Weak transcription	Monocytes-CD14+_RO01746	blood

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