Variant report

Variant	esv2626069
Chromosome Location	chr16:46423262-46423333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74200008	chr16:46423266-46423267	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs72483757	chr16:46423267-46423268	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62021561	chr16:46423274-46423275	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62021562	chr16:46423281-46423282	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71209239	chr16:46423284-46423285	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71236286	chr16:46423288-46423289	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs74192021	chr16:46423290-46423291	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62021563	chr16:46423291-46423292	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112151211	chr16:46423292-46423293	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77346692	chr16:46423295-46423296	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs4967469	chr16:46423302-46423303	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4967470	chr16:46423306-46423307	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs62021564	chr16:46423307-46423308	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538358656	chr16:46423311-46423312	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62021565	chr16:46423314-46423315	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs55753307	chr16:46423316-46423317	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs59908543	chr16:46423319-46423320	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs62021566	chr16:46423320-46423321	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs57588753	chr16:46423323-46423324	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs62021567	chr16:46423330-46423331	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28840074	chr16:46423333-46423334	ZNF genes & repeats Active TSS	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr16:46422000-46423600	ZNF genes & repeats	HUVEC	blood vessel
7	chr16:46422200-46430400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:46422400-46423600	ZNF genes & repeats	HMEC	breast
9	chr16:46422800-46423600	ZNF genes & repeats	HepG2	liver
10	chr16:46422800-46430400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr16:46422800-46430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr16:46423000-46424200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:46423000-46424200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr16:46423000-46424400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr16:46423000-46430000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr16:46423000-46430400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:46423000-46430400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr16:46423000-46430400	ZNF genes & repeats	Liver	Liver
19	chr16:46423000-46430400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr16:46423000-46430400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
21	chr16:46423000-46433200	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr16:46423200-46423400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr16:46423200-46423400	ZNF genes & repeats	Hela-S3	cervix
24	chr16:46423200-46423400	ZNF genes & repeats	Osteobl	bone
25	chr16:46423200-46423600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:46423200-46423600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr16:46423200-46423600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:46423200-46423600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr16:46423200-46423600	ZNF genes & repeats	Brain Angular Gyrus	brain
30	chr16:46423200-46423600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
31	chr16:46423200-46423600	ZNF genes & repeats	Fetal Kidney	kidney
32	chr16:46423200-46423600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr16:46423200-46423600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
34	chr16:46423200-46423600	ZNF genes & repeats	A549	lung
35	chr16:46423200-46423600	ZNF genes & repeats	Dnd41	blood
36	chr16:46423200-46423600	ZNF genes & repeats	GM12878-XiMat	blood
37	chr16:46423200-46423600	ZNF genes & repeats	K562	blood
38	chr16:46423200-46423600	ZNF genes & repeats	NH-A	brain
39	chr16:46423200-46423600	Active TSS	NHDF-Ad	bronchial
40	chr16:46423200-46423600	ZNF genes & repeats	NHLF	lung
41	chr16:46423200-46424000	ZNF genes & repeats	Aorta	Aorta
42	chr16:46423200-46424000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
43	chr16:46423200-46424000	ZNF genes & repeats	Stomach Mucosa	stomach
44	chr16:46423200-46424000	ZNF genes & repeats	HSMMtube	muscle
45	chr16:46423200-46424200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:46423200-46424200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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