Variant report

Variant	esv3332172
Chromosome Location	chr16:33971188-33975553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1148 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368722408	chr16:33971189-33971190	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs71201455	chr16:33971192-33971193	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139773401	chr16:33971193-33971194	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs143378342	chr16:33971195-33971196	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74215529	chr16:33971200-33971201	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4044006	chr16:33971202-33971203	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62030541	chr16:33971209-33971210	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62030542	chr16:33971213-33971214	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139514689	chr16:33971227-33971228	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77560784	chr16:33971228-33971229	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77568848	chr16:33971233-33971234	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs8048839	chr16:33971234-33971235	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs385554	chr16:33971235-33971236	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373387	chr16:33971241-33971242	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148550875	chr16:33971250-33971251	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs62030543	chr16:33971252-33971253	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs71263122	chr16:33971260-33971261	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2204447	chr16:33971262-33971263	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34804266	chr16:33971263-33971264	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74727352	chr16:33971268-33971269	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs8182192	chr16:33971269-33971270	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs71208206	chr16:33971271-33971272	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536975879	chr16:33971272-33971273	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs199754479	chr16:33971278-33971279	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs71201454	chr16:33971280-33971281	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112838262	chr16:33971283-33971284	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144975346	chr16:33971284-33971285	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs71263453	chr16:33971287-33971288	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113312977	chr16:33971291-33971292	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142006167	chr16:33971300-33971301	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113514562	chr16:33971314-33971315	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs71263452	chr16:33971315-33971316	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs62030544	chr16:33971318-33971319	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs144711569	chr16:33971320-33971321	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112480643	chr16:33971325-33971326	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140485928	chr16:33971330-33971331	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150420546	chr16:33971331-33971332	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs8182138	chr16:33971333-33971334	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs385864	chr16:33971335-33971336	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs629179	chr16:33971338-33971339	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62030545	chr16:33971343-33971344	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs142782074	chr16:33971344-33971345	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs199551908	chr16:33971350-33971351	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548736517	chr16:33971351-33971352	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567138931	chr16:33971358-33971359	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113515925	chr16:33971360-33971361	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146986946	chr16:33971361-33971362	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs71244093	chr16:33971363-33971364	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138197000	chr16:33971364-33971365	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs33909945	chr16:33971366-33971367	ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33958000-33979600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr16:33959600-33976400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr16:33959600-33979600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr16:33959800-33979800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:33962600-33979800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:33964200-33979800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr16:33964200-33979800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr16:33965200-33979600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:33966800-33979600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr16:33967000-33979800	ZNF genes & repeats	Liver	Liver
11	chr16:33967800-33976200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr16:33968000-33971600	ZNF genes & repeats	Brain Substantia Nigra	brain
13	chr16:33968000-33971800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:33968000-33979400	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr16:33968200-33976000	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr16:33968200-33977200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:33969400-33979800	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr16:33969600-33976000	ZNF genes & repeats	Fetal Brain Male	brain
19	chr16:33970600-33976000	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr16:33970600-33977000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:33970800-33971400	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr16:33970800-33976000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:33970800-33976000	ZNF genes & repeats	Left Ventricle	heart
24	chr16:33970800-33976200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr16:33970800-33976400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr16:33970800-33977000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr16:33970800-33977000	ZNF genes & repeats	Fetal Heart	heart
28	chr16:33970800-33977200	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr16:33970800-33978600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:33971000-33971200	Bivalent/Poised TSS	Lung	lung
31	chr16:33971000-33971400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr16:33971000-33971400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:33971000-33971400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
34	chr16:33971000-33971400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:33971000-33971400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr16:33971000-33971400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr16:33971000-33971400	ZNF genes & repeats	Colonic Mucosa	Colon
38	chr16:33971000-33971400	ZNF genes & repeats	Fetal Kidney	kidney
39	chr16:33971000-33971400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
40	chr16:33971000-33971400	Bivalent/Poised TSS	Right Atrium	heart
41	chr16:33971000-33971400	ZNF genes & repeats	A549	lung
42	chr16:33971000-33971400	ZNF genes & repeats	NH-A	brain
43	chr16:33971000-33971600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
44	chr16:33971000-33971600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:33971000-33971600	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr16:33971000-33971600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr16:33971000-33971600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:33971000-33971600	ZNF genes & repeats	Right Ventricle	heart
49	chr16:33971000-33971600	ZNF genes & repeats	Stomach Mucosa	stomach
50	chr16:33971000-33971600	ZNF genes & repeats	HUVEC	blood vessel

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