Variant report

Variant	nsv960005
Chromosome Location	chr16:47357975-47371647
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	chr16:47352976..47355256-chr16:47362064..47365437,3	K562	blood:

Extended variants
information (count: 494 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:494 , 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	rs553111115	chr16:47357984-47357985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578053470	chr16:47358007-47358008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114781583	chr16:47358022-47358023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189113928	chr16:47358083-47358084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545550357	chr16:47358107-47358108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191397786	chr16:47358118-47358119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4967839	chr16:47358181-47358182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561163148	chr16:47358196-47358197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531710649	chr16:47358206-47358207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540434731	chr16:47358301-47358302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565024724	chr16:47358312-47358313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532276357	chr16:47358313-47358314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550390018	chr16:47358314-47358315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562533521	chr16:47358315-47358316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529681223	chr16:47358319-47358320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550649254	chr16:47358323-47358324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567629473	chr16:47358343-47358344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149314933	chr16:47358344-47358345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546839221	chr16:47358352-47358353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571738274	chr16:47358354-47358355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539157378	chr16:47358359-47358360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539655677	chr16:47358379-47358380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557153424	chr16:47358441-47358442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569302732	chr16:47358444-47358445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536657929	chr16:47358445-47358446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536415832	chr16:47358457-47358458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554959449	chr16:47358509-47358510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573175550	chr16:47358510-47358511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201527968	chr16:47358563-47358564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183717841	chr16:47358595-47358596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558753328	chr16:47358691-47358692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576942632	chr16:47358712-47358713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374211589	chr16:47358763-47358764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7498593	chr16:47358821-47358822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187656425	chr16:47358837-47358838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191774301	chr16:47358844-47358845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566593124	chr16:47358853-47358854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541428922	chr16:47358887-47358888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559716104	chr16:47358889-47358890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184283343	chr16:47358890-47358891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528798991	chr16:47358918-47358919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546872361	chr16:47358920-47358921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571837698	chr16:47358922-47358923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532619164	chr16:47358937-47358938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551116265	chr16:47358947-47358948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569259163	chr16:47358962-47358963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139256791	chr16:47358968-47358969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533617297	chr16:47358976-47358977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555047483	chr16:47359057-47359058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199756969	chr16:47359086-47359087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47311400-47362200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:47333400-47371600	Weak transcription	Esophagus	oesophagus
3	chr16:47334400-47371200	Weak transcription	Aorta	Aorta
4	chr16:47334400-47371600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:47334400-47371600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:47334600-47372800	Weak transcription	Primary T cells from cord blood	blood
7	chr16:47342800-47364800	Weak transcription	Primary B cells from cord blood	blood
8	chr16:47344600-47371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:47344800-47358800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr16:47344800-47370200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:47346200-47371600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:47346400-47371400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:47346400-47371400	Weak transcription	Dnd41	blood
14	chr16:47346400-47371400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:47346800-47371600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:47350600-47371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:47351400-47370200	Weak transcription	Ovary	ovary
18	chr16:47355200-47371600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:47360400-47371600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:47361600-47371400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr16:47362600-47371600	Weak transcription	Left Ventricle	heart
22	chr16:47362800-47363600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:47362800-47364000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:47363200-47364000	Enhancers	Colon Smooth Muscle	Colon
25	chr16:47364600-47370200	Weak transcription	Pancreas	Pancrea
26	chr16:47364800-47365400	Strong transcription	Primary B cells from cord blood	blood
27	chr16:47365200-47371200	Weak transcription	Lung	lung
28	chr16:47365400-47371000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:47365400-47371400	Weak transcription	Primary B cells from cord blood	blood
30	chr16:47365400-47371600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr16:47366000-47371600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:47366400-47371200	Weak transcription	Fetal Intestine Large	intestine
33	chr16:47366600-47371400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:47366800-47371600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:47367000-47371600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:47367600-47367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:47368000-47368400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:47368000-47371600	Weak transcription	HSMM	muscle
39	chr16:47368600-47371600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr16:47368800-47371400	Weak transcription	Fetal Intestine Small	intestine
41	chr16:47368800-47371600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr16:47368800-47409000	Weak transcription	HepG2	liver
43	chr16:47369600-47371400	Weak transcription	A549	lung
44	chr16:47369800-47370200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:47369800-47371200	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:47369800-47371600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr16:47370000-47370200	Weak transcription	Adipose Nuclei	Adipose
48	chr16:47370200-47370400	Enhancers	Brain Anterior Caudate	brain
49	chr16:47370200-47370400	ZNF genes & repeats	Pancreas	Pancrea
50	chr16:47370200-47370600	Strong transcription	Duodenum Mucosa	Duodenum

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