Variant report

Variant	esv3340795
Chromosome Location	chr16:47703048-47703619
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	chr16:47689743..47692961-chr16:47700339..47703493,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66531746	chr16:47703069-47703070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567033139	chr16:47703079-47703080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539355127	chr16:47703082-47703083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115778527	chr16:47703085-47703086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371016106	chr16:47703122-47703123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187940556	chr16:47703131-47703132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61494991	chr16:47703143-47703144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532057230	chr16:47703150-47703151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9934849	chr16:47703157-47703158	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140117779	chr16:47703230-47703231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374731360	chr16:47703238-47703239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200981011	chr16:47703242-47703243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550418875	chr16:47703257-47703258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200492495	chr16:47703259-47703260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142281844	chr16:47703291-47703292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545345880	chr16:47703324-47703325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17812908	chr16:47703326-47703327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150902092	chr16:47703327-47703328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565233532	chr16:47703355-47703356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532772799	chr16:47703368-47703369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530940317	chr16:47703389-47703390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544660925	chr16:47703444-47703445	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547665662	chr16:47703461-47703462	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530240685	chr16:47703528-47703529	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564362543	chr16:47703536-47703537	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16945483	chr16:47703607-47703608	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
2	chr16:47661200-47709200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
6	chr16:47678400-47722800	Weak transcription	NHDF-Ad	bronchial
7	chr16:47678400-47730800	Weak transcription	NH-A	brain
8	chr16:47678600-47733200	Weak transcription	NHLF	lung
9	chr16:47680600-47711600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr16:47681400-47710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:47683400-47710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:47685000-47717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:47685600-47730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:47688200-47710800	Weak transcription	Fetal Thymus	thymus
15	chr16:47688200-47727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:47688200-47727200	Weak transcription	Hela-S3	cervix
17	chr16:47689600-47711600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:47690200-47704200	Strong transcription	Adipose Nuclei	Adipose
19	chr16:47690400-47703800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr16:47692200-47709000	Weak transcription	Pancreas	Pancrea
21	chr16:47693000-47710600	Weak transcription	Fetal Heart	heart
22	chr16:47693600-47709400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:47694400-47703600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:47694600-47705000	Strong transcription	Left Ventricle	heart
25	chr16:47694600-47705800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:47695200-47709000	Weak transcription	Right Ventricle	heart
27	chr16:47695200-47709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:47695200-47709400	Weak transcription	Psoas Muscle	Psoas
29	chr16:47695200-47710600	Weak transcription	Brain Angular Gyrus	brain
30	chr16:47695400-47708600	Weak transcription	Gastric	stomach
31	chr16:47695400-47710200	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:47695600-47709400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:47695800-47709200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:47695800-47709200	Weak transcription	Fetal Brain Female	brain
35	chr16:47695800-47709400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:47695800-47710400	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:47695800-47727200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:47695800-47735000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:47696000-47708000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:47696000-47708000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:47696000-47708600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:47696000-47708600	Weak transcription	Spleen	Spleen
43	chr16:47696000-47709000	Weak transcription	Colonic Mucosa	Colon
44	chr16:47696000-47709000	Weak transcription	Ovary	ovary
45	chr16:47696000-47709600	Weak transcription	HSMM	muscle
46	chr16:47696000-47710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:47696000-47710400	Weak transcription	Brain Substantia Nigra	brain
48	chr16:47696000-47727800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr16:47696000-47730200	Weak transcription	NHEK	skin
50	chr16:47696000-47737800	Weak transcription	HMEC	breast

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