Variant report

Variant	esv1823569
Chromosome Location	chr16:33981758-34020957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5203 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:5203 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74823851	chr16:33981758-33981759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201801998	chr16:33981759-33981760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78937483	chr16:33981765-33981766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200789682	chr16:33981766-33981767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77763144	chr16:33981773-33981774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112170917	chr16:33981776-33981777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75215551	chr16:33981779-33981780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542559027	chr16:33981783-33981784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75874329	chr16:33981788-33981789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76505164	chr16:33981793-33981794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78091298	chr16:33981795-33981796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111887613	chr16:33981805-33981806	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554762222	chr16:33981806-33981807	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78061118	chr16:33981808-33981809	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79358075	chr16:33981809-33981810	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368557969	chr16:33981811-33981812	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559860392	chr16:33981812-33981813	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76519732	chr16:33981813-33981814	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs75672664	chr16:33981814-33981815	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74704720	chr16:33981816-33981817	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs79590300	chr16:33981818-33981819	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533497697	chr16:33981819-33981820	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545350660	chr16:33981822-33981823	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62027154	chr16:33981834-33981835	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs80252496	chr16:33981838-33981839	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113559783	chr16:33981840-33981841	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74468923	chr16:33981841-33981842	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77027962	chr16:33981842-33981843	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7359338	chr16:33981855-33981856	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112097877	chr16:33981856-33981857	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs62027155	chr16:33981857-33981858	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141823691	chr16:33981860-33981861	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563553546	chr16:33981861-33981862	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs412921	chr16:33981866-33981867	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7359339	chr16:33981868-33981869	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs372030181	chr16:33981880-33981881	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs374222108	chr16:33981890-33981891	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs62027156	chr16:33981893-33981894	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34078659	chr16:33981900-33981901	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368173995	chr16:33981909-33981910	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371596573	chr16:33981910-33981911	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138329495	chr16:33981929-33981930	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148874582	chr16:33981930-33981931	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112453759	chr16:33981933-33981934	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs199646687	chr16:33981939-33981940	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35604287	chr16:33981943-33981944	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200265925	chr16:33981944-33981945	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147770804	chr16:33981945-33981946	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368643374	chr16:33981946-33981947	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371309189	chr16:33981947-33981948	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33977000-33981800	Weak transcription	Right Atrium	heart
2	chr16:33979800-33981800	Weak transcription	Adipose Nuclei	Adipose
3	chr16:33979800-33981800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:33979800-33981800	Weak transcription	Psoas Muscle	Psoas
5	chr16:33981600-33988600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr16:33981600-33988600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr16:33981800-33983200	Active TSS	Right Atrium	heart
8	chr16:33981800-33985600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:33981800-33986200	ZNF genes & repeats	Liver	Liver
10	chr16:33981800-33988400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:33981800-33988400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:33981800-33988400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr16:33981800-33988400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr16:33981800-33988400	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr16:33982000-33984400	ZNF genes & repeats	Dnd41	blood
16	chr16:33982000-33988400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:33982200-33986000	Active TSS	Aorta	Aorta
18	chr16:33982400-33984200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
19	chr16:33982600-33983200	ZNF genes & repeats	Right Ventricle	heart
20	chr16:33982600-33984600	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr16:33982600-33984600	ZNF genes & repeats	Fetal Brain Male	brain
22	chr16:33982600-33984600	ZNF genes & repeats	Fetal Heart	heart
23	chr16:33982600-33986200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr16:33982600-33988600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr16:33982800-33988400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr16:33983000-33983200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr16:33983000-33983400	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr16:33983200-33983400	ZNF genes & repeats	Right Atrium	heart
29	chr16:33983400-33986200	Active TSS	Right Atrium	heart
30	chr16:33983800-33988400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
31	chr16:33986000-33986800	Weak transcription	Aorta	Aorta
32	chr16:33986200-33987000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:33986200-33987400	Weak transcription	Right Atrium	heart
34	chr16:33986800-33988400	Active TSS	Aorta	Aorta
35	chr16:33986800-33988400	ZNF genes & repeats	Liver	Liver
36	chr16:33987000-33988000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr16:33987000-33988400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr16:33987000-33988400	ZNF genes & repeats	Dnd41	blood
39	chr16:33987200-33988200	ZNF genes & repeats	Fetal Heart	heart
40	chr16:33987200-33988400	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr16:33987400-33987800	Active TSS	Right Atrium	heart
42	chr16:33987400-33988400	ZNF genes & repeats	Fetal Brain Male	brain
43	chr16:33988400-33991600	Weak transcription	Psoas Muscle	Psoas
44	chr16:33988400-33991800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:33988400-33991800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr16:33988400-33991800	Weak transcription	Adipose Nuclei	Adipose
47	chr16:33988400-33991800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr16:33988400-33991800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:33988400-33991800	Weak transcription	Dnd41	blood
50	chr16:33988600-33991800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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