Variant report

Variant	esv3444655
Chromosome Location	chr16:33981490-34022253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5493 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:5493 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151247691	chr16:33981496-33981497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75950915	chr16:33981502-33981503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1314745	chr16:33981505-33981506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71236691	chr16:33981512-33981513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559926370	chr16:33981525-33981526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146189684	chr16:33981529-33981530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201216562	chr16:33981534-33981535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2674697	chr16:33981537-33981538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76786375	chr16:33981543-33981544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71247811	chr16:33981544-33981545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2310611	chr16:33981547-33981548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36164397	chr16:33981550-33981551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2674698	chr16:33981552-33981553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149850018	chr16:33981559-33981560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142413316	chr16:33981560-33981561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376255331	chr16:33981563-33981564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs406561	chr16:33981566-33981567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78909996	chr16:33981567-33981568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75287691	chr16:33981570-33981571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112466857	chr16:33981572-33981573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76739014	chr16:33981576-33981577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80211277	chr16:33981577-33981578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370064979	chr16:33981578-33981579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116366958	chr16:33981585-33981586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77060351	chr16:33981586-33981587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78113989	chr16:33981587-33981588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58154789	chr16:33981595-33981596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77441856	chr16:33981596-33981597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7359332	chr16:33981598-33981599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570311147	chr16:33981599-33981600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79975703	chr16:33981612-33981613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531124316	chr16:33981616-33981617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2674699	chr16:33981617-33981618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2674700	chr16:33981621-33981622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2674407	chr16:33981635-33981636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71247812	chr16:33981639-33981640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111975922	chr16:33981640-33981641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111388330	chr16:33981650-33981651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79650276	chr16:33981654-33981655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113007825	chr16:33981657-33981658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77969501	chr16:33981661-33981662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549525557	chr16:33981665-33981666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567531001	chr16:33981667-33981668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78682523	chr16:33981669-33981670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77994609	chr16:33981676-33981677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78446906	chr16:33981682-33981683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76443395	chr16:33981684-33981685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74549010	chr16:33981687-33981688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552650906	chr16:33981692-33981693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112939643	chr16:33981693-33981694	ZNF genes & repeats Weak transcription	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:274 , 50 per page) page: 1 2 3 4 5 6

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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