Variant report

Variant	esv3429612
Chromosome Location	chr16:46419555-46419701
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	chr16:46419232..46419882-chr2:89838516..89839016,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144676276	chr16:46419571-46419572	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs147615719	chr16:46419584-46419585	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs142216000	chr16:46419585-46419586	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs58670505	chr16:46419588-46419589	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs142201013	chr16:46419601-46419602	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs145928608	chr16:46419616-46419617	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs145658309	chr16:46419619-46419620	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs4490024	chr16:46419623-46419624	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs143454298	chr16:46419626-46419627	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs55769200	chr16:46419634-46419635	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs55771777	chr16:46419660-46419661	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs28795741	chr16:46419673-46419674	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs4471704	chr16:46419680-46419681	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs144724431	chr16:46419697-46419698	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs60919448	chr16:46419698-46419699	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Autism	19955444	CNVD
Schizophrenia	19955444	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

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46421600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr16:46415200-46421600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:46416800-46420000	ZNF genes & repeats	Left Ventricle	heart
6	chr16:46416800-46420200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr16:46416800-46420200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr16:46416800-46420400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
9	chr16:46416800-46420400	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr16:46416800-46420600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr16:46416800-46420600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr16:46416800-46420800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr16:46416800-46421400	ZNF genes & repeats	Gastric	stomach
14	chr16:46416800-46421600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr16:46416800-46421600	ZNF genes & repeats	Liver	Liver
16	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr16:46416800-46421600	ZNF genes & repeats	Fetal Brain Male	brain
19	chr16:46416800-46421600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr16:46416800-46421800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr16:46419400-46419800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:46419400-46419800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
25	chr16:46419400-46419800	ZNF genes & repeats	Lung	lung
26	chr16:46419400-46419800	ZNF genes & repeats	HSMM	muscle
27	chr16:46419400-46420000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:46419400-46420000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:46419400-46420000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:46419400-46420000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:46419400-46420000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:46419400-46420000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:46419400-46420000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr16:46419400-46420000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:46419400-46420000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:46419400-46420000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:46419400-46420000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:46419400-46420000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
39	chr16:46419400-46420000	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr16:46419400-46420000	ZNF genes & repeats	Placenta	Placenta
41	chr16:46419400-46420000	ZNF genes & repeats	Fetal Stomach	stomach
42	chr16:46419400-46420000	ZNF genes & repeats	Ovary	ovary
43	chr16:46419400-46420000	ZNF genes & repeats	Pancreas	Pancrea
44	chr16:46419400-46420000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
45	chr16:46419400-46420000	ZNF genes & repeats	Right Atrium	heart
46	chr16:46419400-46420000	ZNF genes & repeats	Right Ventricle	heart
47	chr16:46419400-46420000	ZNF genes & repeats	Spleen	Spleen
48	chr16:46419400-46420000	ZNF genes & repeats	GM12878-XiMat	blood
49	chr16:46419400-46420000	ZNF genes & repeats	Hela-S3	cervix
50	chr16:46419400-46420000	ZNF genes & repeats	K562	blood

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