Variant report

Variant	esv3439492
Chromosome Location	chr16:46403536-46403603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60575971	chr16:46403537-46403538	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs9928321	chr16:46403538-46403539	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141792115	chr16:46403543-46403544	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138129112	chr16:46403553-46403554	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs13338798	chr16:46403555-46403556	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs57957599	chr16:46403564-46403565	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs28770249	chr16:46403565-46403566	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78164389	chr16:46403568-46403569	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11247431	chr16:46403570-46403571	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28851586	chr16:46403573-46403574	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs13332340	chr16:46403574-46403575	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146522317	chr16:46403583-46403584	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs13336397	chr16:46403585-46403586	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4637079	chr16:46403587-46403588	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28815010	chr16:46403589-46403590	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs57852595	chr16:46403591-46403592	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs9928333	chr16:46403592-46403593	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148668386	chr16:46403593-46403594	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs55649182	chr16:46403594-46403595	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150804974	chr16:46403596-46403597	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28786711	chr16:46403601-46403602	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs58872910	chr16:46403602-46403603	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs28885694	chr16:46403603-46403604	ZNF genes & repeats 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
2	chr16:46389200-46404000	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr16:46389200-46404000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr16:46398000-46404000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr16:46398200-46404000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr16:46398200-46404000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:46398200-46404000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr16:46398200-46404000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr16:46398200-46404000	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr16:46398200-46404000	ZNF genes & repeats	Liver	Liver
13	chr16:46398200-46404000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr16:46398200-46404000	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr16:46398200-46404000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
16	chr16:46398200-46404000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr16:46398400-46404000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr16:46398400-46404000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr16:46398400-46404000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr16:46398400-46404000	ZNF genes & repeats	HMEC	breast
21	chr16:46400600-46404000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:46400800-46404000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:46401000-46404000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
24	chr16:46401000-46404000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr16:46401000-46404000	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr16:46401000-46404000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr16:46403000-46404000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:46403000-46404000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:46403000-46404000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
30	chr16:46403000-46404000	ZNF genes & repeats	Fetal Lung	lung
31	chr16:46403000-46404000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr16:46403000-46404000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr16:46403200-46403800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:46403200-46403800	ZNF genes & repeats	Aorta	Aorta
35	chr16:46403200-46403800	ZNF genes & repeats	Esophagus	oesophagus
36	chr16:46403200-46403800	ZNF genes & repeats	Lung	lung
37	chr16:46403200-46404000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr16:46403200-46404000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
39	chr16:46403200-46404000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:46403200-46404000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:46403200-46404000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:46403200-46404000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:46403200-46404000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:46403200-46404000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr16:46403200-46404000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:46403200-46404000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:46403200-46404000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:46403200-46404000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:46403200-46404000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr16:46403200-46404000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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