Variant report

Variant	esv3395980
Chromosome Location	chr16:46405094-46412703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2477 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2477 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56279006	chr16:46405094-46405095	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs12103341	chr16:46405095-46405096	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs28784679	chr16:46405096-46405097	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs28842505	chr16:46405097-46405098	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs4967135	chr16:46405098-46405099	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs28795969	chr16:46405099-46405100	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs28795096	chr16:46405101-46405102	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs56032583	chr16:46405104-46405105	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs28831811	chr16:46405105-46405106	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs57972123	chr16:46405106-46405107	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs4447589	chr16:46405107-46405108	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs9746877	chr16:46405108-46405109	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs28608920	chr16:46405109-46405110	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs4380209	chr16:46405110-46405111	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs28544241	chr16:46405111-46405112	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs28539998	chr16:46405112-46405113	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs56961712	chr16:46405114-46405115	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs4967136	chr16:46405115-46405116	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs55995232	chr16:46405116-46405117	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs28728324	chr16:46405117-46405118	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs9746878	chr16:46405118-46405119	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs4380210	chr16:46405120-46405121	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs28416321	chr16:46405121-46405122	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs56895849	chr16:46405123-46405124	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs28785837	chr16:46405125-46405126	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs28862681	chr16:46405127-46405128	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs12102470	chr16:46405128-46405129	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs28852154	chr16:46405129-46405130	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs28859958	chr16:46405131-46405132	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs28824789	chr16:46405132-46405133	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs28854476	chr16:46405134-46405135	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs28862686	chr16:46405136-46405137	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs9328623	chr16:46405137-46405138	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs4291926	chr16:46405138-46405139	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs7185260	chr16:46405139-46405140	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs4966518	chr16:46405141-46405142	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs28769884	chr16:46405143-46405144	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs55698324	chr16:46405145-46405146	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs9933781	chr16:46405146-46405147	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs4249163	chr16:46405147-46405148	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs4386297	chr16:46405148-46405149	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs28858723	chr16:46405149-46405150	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs8044672	chr16:46405150-46405151	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs55891672	chr16:46405152-46405153	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs28854290	chr16:46405153-46405154	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs28808615	chr16:46405154-46405155	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs374515368	chr16:46405155-46405156	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs66470176	chr16:46405156-46405157	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs56028728	chr16:46405157-46405158	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs28868984	chr16:46405158-46405159	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:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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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