Variant report

Variant	esv1792493
Chromosome Location	chr16:34002523-34020957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2342 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:2342 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11862160	chr16:34002523-34002524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569957281	chr16:34002528-34002529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536800522	chr16:34002533-34002534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79251519	chr16:34002553-34002554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77217008	chr16:34002554-34002555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75131243	chr16:34002564-34002565	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200796673	chr16:34002568-34002569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555550405	chr16:34002574-34002575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74615320	chr16:34002594-34002595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575663663	chr16:34002601-34002602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs368387621	chr16:34002604-34002605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542340263	chr16:34002609-34002610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77392847	chr16:34002615-34002616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76009198	chr16:34002622-34002623	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572457693	chr16:34002627-34002628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200095802	chr16:34002633-34002634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546235694	chr16:34002634-34002635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564577077	chr16:34002642-34002643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77141321	chr16:34002647-34002648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75015465	chr16:34002649-34002650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75605693	chr16:34002657-34002658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532039549	chr16:34002675-34002676	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs78941880	chr16:34002679-34002680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75454203	chr16:34002681-34002682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs36193362	chr16:34002686-34002687	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113047660	chr16:34002695-34002696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543801985	chr16:34002767-34002768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs4023867	chr16:34002786-34002787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532305148	chr16:34002820-34002821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562303568	chr16:34002831-34002832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541901998	chr16:34002849-34002850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560189198	chr16:34002855-34002856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11866222	chr16:34002880-34002881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111255084	chr16:34002903-34002904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532736821	chr16:34002924-34002925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559103152	chr16:34002941-34002942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569811610	chr16:34002949-34002950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537345254	chr16:34002956-34002957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376322076	chr16:34002966-34002967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555425146	chr16:34002967-34002968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529852790	chr16:34002998-34002999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539998760	chr16:34003003-34003004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62005901	chr16:34003007-34003008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554274959	chr16:34003015-34003016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201335937	chr16:34003042-34003043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569413453	chr16:34003047-34003048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545837211	chr16:34003064-34003065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558122929	chr16:34003080-34003081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576405002	chr16:34003081-34003082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199831907	chr16:34003089-34003090	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34000400-34002800	Weak transcription	Stomach Mucosa	stomach
2	chr16:34002400-34002800	ZNF genes & repeats	Dnd41	blood
3	chr16:34002800-34004000	Weak transcription	Dnd41	blood
4	chr16:34004000-34005200	ZNF genes & repeats	Dnd41	blood
5	chr16:34004000-34008000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr16:34004000-34010400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr16:34004000-34016600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr16:34004000-34016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:34004200-34016800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr16:34005000-34007200	Weak transcription	Stomach Mucosa	stomach
11	chr16:34005000-34007800	ZNF genes & repeats	HepG2	liver
12	chr16:34005400-34006000	ZNF genes & repeats	Liver	Liver
13	chr16:34005400-34006200	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr16:34005400-34006200	ZNF genes & repeats	HUVEC	blood vessel
15	chr16:34005600-34005800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr16:34007000-34007400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:34007000-34007400	ZNF genes & repeats	HUVEC	blood vessel
18	chr16:34007000-34007800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr16:34007200-34007400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:34007200-34007400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:34007200-34007400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:34007200-34007400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:34007200-34007400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:34007200-34007400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr16:34007200-34007400	ZNF genes & repeats	Colon Smooth Muscle	Colon
26	chr16:34007200-34007400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
27	chr16:34007200-34007400	ZNF genes & repeats	Small Intestine	intestine
28	chr16:34007200-34007400	ZNF genes & repeats	Stomach Mucosa	stomach
29	chr16:34007200-34007400	Enhancers	Thymus	Thymus
30	chr16:34007200-34007600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:34007200-34007600	ZNF genes & repeats	Colonic Mucosa	Colon
32	chr16:34007200-34007600	ZNF genes & repeats	Fetal Brain Male	brain
33	chr16:34007200-34007600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr16:34007600-34009000	Weak transcription	Aorta	Aorta
35	chr16:34009600-34009800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:34010400-34011600	Weak transcription	Aorta	Aorta
37	chr16:34011600-34012400	Active TSS	Aorta	Aorta
38	chr16:34012200-34013000	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr16:34012600-34014600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr16:34014200-34016600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr16:34015600-34015800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr16:34015800-34016800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:34016800-34021200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr16:34016800-34021400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:34016800-34021400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:34019800-34021400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:34020000-34020200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:34020800-34023000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links