Variant report

Variant	esv3349517
Chromosome Location	chr16:31970551-31974249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:31973981-31974029	LNCaP	prostate:	n/a	chr16:31973994-31974010 chr16:31973988-31974009
2	IRF4	chr16:31971972-31972769	GM12878	blood:	n/a	n/a
3	MYC	chr16:31971629-31971631	MCF-7	breast:	n/a	n/a
4	MYC	chr16:31971636-31971662	MCF-7	breast:	n/a	n/a
5	PAX5	chr16:31971971-31972658	GM12878	blood:	n/a	n/a
6	PAX5	chr16:31971527-31972723	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31971307-31971439	Gliobla	brain:	n/a	n/a
8	POLR2A	chr16:31971952-31971963	A549	lung:	n/a	n/a
9	POLR2A	chr16:31971975-31971992	A549	lung:	n/a	n/a
10	POLR2A	chr16:31971935-31971937	A549	lung:	n/a	n/a
11	POLR2A	chr16:31972451-31972610	Gliobla	brain:	n/a	n/a
12	POLR2A	chr16:31972402-31972647	A549	lung:	n/a	n/a
13	POLR2A	chr16:31971625-31971969	Gliobla	brain:	n/a	n/a
14	POLR2A	chr16:31971387-31971645	A549	lung:	n/a	n/a
15	POU2F2	chr16:31973538-31973851	GM12878	blood:	n/a	n/a
16	POU2F2	chr16:31971908-31972530	GM12878	blood:	n/a	n/a
17	SPI1	chr16:31972151-31972434	GM12878	blood:	n/a	n/a
18	SRF	chr16:31971535-31972596	GM12878	blood:	n/a	n/a
19	USF1	chr16:31971070-31971283	HepG2	liver:	n/a	chr16:31971175-31971184 chr16:31971174-31971183 chr16:31971173-31971186 chr16:31971176-31971185 chr16:31971175-31971184 chr16:31971173-31971184
20	USF1	chr16:31972205-31972339	HepG2	liver:	n/a	n/a
21	USF1	chr16:31971074-31971290	HepG2	liver:	n/a	chr16:31971175-31971184 chr16:31971174-31971183 chr16:31971173-31971186 chr16:31971176-31971185 chr16:31971175-31971184 chr16:31971173-31971184
22	ZBTB33	chr16:31972017-31972616	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF267-4	chr16:31972893-31972899	NONHSAT141979
2	lnc-ZNF267-4	chr16:31973257-31973743	NONHSAT141979

Variant related genes	Relation type
ENSG00000197476	TF binding region
ENSG00000260218	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7500857	chr16:31971070-31971071	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs7500861	chr16:31971086-31971087	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs113145928	chr16:31971135-31971136	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs369781302	chr16:31971179-31971180	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs201495592	chr16:31971198-31971199	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs182563267	chr16:31971220-31971221	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs150981497	chr16:31971289-31971290	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs552492481	chr16:31971328-31971329	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs571050649	chr16:31971349-31971350	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs199666081	chr16:31971402-31971403	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs537935002	chr16:31971410-31971411	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs556631553	chr16:31971411-31971412	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs568083602	chr16:31971412-31971413	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs535461715	chr16:31971424-31971425	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs536110357	chr16:31971436-31971437	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs554404995	chr16:31971456-31971457	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs554560419	chr16:31971457-31971458	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs572793658	chr16:31971551-31971552	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs368643290	chr16:31971561-31971562	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs371053439	chr16:31971577-31971578	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs187520711	chr16:31971581-31971582	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs577004096	chr16:31971602-31971603	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs543937629	chr16:31971603-31971604	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs537197577	chr16:31971606-31971607	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs367794934	chr16:31971624-31971625	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs62054095	chr16:31971632-31971633	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs62054096	chr16:31971645-31971646	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs574444679	chr16:31971648-31971649	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs188534962	chr16:31971682-31971683	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs191985872	chr16:31971693-31971694	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs113485616	chr16:31971702-31971703	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs147193440	chr16:31971705-31971706	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs149780526	chr16:31971707-31971708	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs62054097	chr16:31971719-31971720	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs146612375	chr16:31971728-31971729	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs199521268	chr16:31971786-31971787	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs527956073	chr16:31971787-31971788	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs552865248	chr16:31971793-31971794	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs564486076	chr16:31971798-31971799	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs367875121	chr16:31971810-31971811	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs558349153	chr16:31971869-31971870	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs112893548	chr16:31971875-31971876	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs71391231	chr16:31971891-31971892	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs568227210	chr16:31971896-31971897	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs535595404	chr16:31971900-31971901	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs375145432	chr16:31971928-31971929	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs370186280	chr16:31971960-31971961	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs565766577	chr16:31971999-31972000	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs533830393	chr16:31972001-31972002	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs558829995	chr16:31972002-31972003	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	21509527	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
Bladder cancer	21909424	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
Sezary syndrome	18413736	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31971800-31972200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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