Variant report

Variant	esv2442613
Chromosome Location	chr16:46405012-46405135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9796972	chr16:46405012-46405013	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs9673819	chr16:46405013-46405014	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs28793984	chr16:46405014-46405015	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs4967129	chr16:46405016-46405017	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs28768092	chr16:46405018-46405019	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs28809043	chr16:46405019-46405020	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs4438328	chr16:46405022-46405023	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs9673821	chr16:46405023-46405024	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs28817418	chr16:46405024-46405025	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs56057663	chr16:46405025-46405026	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs12102855	chr16:46405029-46405030	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs56795333	chr16:46405030-46405031	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs60659808	chr16:46405032-46405033	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs61686099	chr16:46405033-46405034	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs4967130	chr16:46405034-46405035	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs28772678	chr16:46405035-46405036	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs28754981	chr16:46405036-46405037	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs9708733	chr16:46405038-46405039	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs4246398	chr16:46405039-46405040	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs142876429	chr16:46405042-46405043	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs28848320	chr16:46405043-46405044	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs151074222	chr16:46405044-46405045	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs28874092	chr16:46405045-46405046	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs28843094	chr16:46405047-46405048	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs2128458	chr16:46405048-46405049	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs57611515	chr16:46405049-46405050	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs60863968	chr16:46405051-46405052	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs4966512	chr16:46405052-46405053	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs4966513	chr16:46405054-46405055	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs28862271	chr16:46405055-46405056	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs60114532	chr16:46405056-46405057	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs9673949	chr16:46405057-46405058	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs4967132	chr16:46405058-46405059	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs28844981	chr16:46405059-46405060	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs28780772	chr16:46405060-46405061	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs28815292	chr16:46405061-46405062	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs4966514	chr16:46405062-46405063	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs28831232	chr16:46405063-46405064	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs71221478	chr16:46405065-46405066	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs28809549	chr16:46405066-46405067	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs28835655	chr16:46405067-46405068	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs2128459	chr16:46405068-46405069	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs150182432	chr16:46405069-46405070	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs28814307	chr16:46405071-46405072	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs28872605	chr16:46405072-46405073	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs4967133	chr16:46405073-46405074	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs4967134	chr16:46405075-46405076	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs28865690	chr16:46405076-46405077	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs4966515	chr16:46405077-46405078	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs28817074	chr16:46405078-46405079	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:46404800-46405200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:46404800-46405200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:46404800-46405200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:46404800-46405200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:46404800-46405200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:46404800-46405200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:46404800-46405200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr16:46404800-46405200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr16:46404800-46405200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:46404800-46405200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:46404800-46405200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:46404800-46405200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:46404800-46405200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:46404800-46405200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:46404800-46405200	ZNF genes & repeats	Brain Angular Gyrus	brain
18	chr16:46404800-46405200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
19	chr16:46404800-46405200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:46404800-46405200	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr16:46404800-46405200	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr16:46404800-46405200	ZNF genes & repeats	Fetal Kidney	kidney
23	chr16:46404800-46405200	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr16:46404800-46405200	ZNF genes & repeats	Placenta	Placenta
25	chr16:46404800-46405200	ZNF genes & repeats	Lung	lung
26	chr16:46404800-46405200	ZNF genes & repeats	Ovary	ovary
27	chr16:46404800-46405200	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
28	chr16:46404800-46405200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr16:46404800-46405200	ZNF genes & repeats	Thymus	Thymus
30	chr16:46404800-46405200	ZNF genes & repeats	HepG2	liver
31	chr16:46404800-46405200	ZNF genes & repeats	HSMM	muscle
32	chr16:46404800-46405200	ZNF genes & repeats	NHDF-Ad	bronchial
33	chr16:46404800-46405200	ZNF genes & repeats	NHEK	skin
34	chr16:46404800-46405200	ZNF genes & repeats	NHLF	lung
35	chr16:46404800-46405400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:46404800-46405400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:46404800-46405400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr16:46404800-46405400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr16:46404800-46405400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:46404800-46405400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:46404800-46405400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:46404800-46405400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:46404800-46405400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:46404800-46405400	Flanking Bivalent TSS/Enh	Aorta	Aorta
45	chr16:46404800-46405400	ZNF genes & repeats	Esophagus	oesophagus
46	chr16:46404800-46405400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
47	chr16:46404800-46405400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr16:46404800-46405400	ZNF genes & repeats	Fetal Stomach	stomach
49	chr16:46404800-46405400	ZNF genes & repeats	Fetal Thymus	thymus
50	chr16:46404800-46405400	ZNF genes & repeats	Pancreas	Pancrea

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