Variant report

Variant	nsv962142
Chromosome Location	chr16:34320219-34324465
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	POLR2A	chr16:34322771-34322993	GM12891	blood:	n/a	n/a
2	POLR2A	chr16:34322823-34323342	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:34322346-34322351	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-12	chr16:34320267-34320490	NONHSAT142151

Variant related genes	Relation type
ENSG00000261053	TF binding region
ENSG00000260809	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572641355	chr16:34320251-34320252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546434879	chr16:34320253-34320254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558031795	chr16:34320258-34320259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576201535	chr16:34320282-34320283	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559684870	chr16:34320295-34320296	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs543621778	chr16:34320303-34320304	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs571931887	chr16:34320306-34320307	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs114089107	chr16:34320310-34320311	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs573706840	chr16:34320320-34320321	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs540665000	chr16:34320327-34320328	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs56105021	chr16:34320353-34320354	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559262603	chr16:34320361-34320362	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs188320551	chr16:34320369-34320370	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs551676891	chr16:34320372-34320373	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs371461418	chr16:34320437-34320438	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs573151181	chr16:34320447-34320448	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs180852837	chr16:34320469-34320470	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs530709333	chr16:34320475-34320476	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs549227828	chr16:34320476-34320477	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs375831203	chr16:34320500-34320501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs71378657	chr16:34320520-34320521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139223769	chr16:34320523-34320524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535985894	chr16:34320539-34320540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12933041	chr16:34320551-34320552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186578782	chr16:34320556-34320557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566017189	chr16:34320564-34320565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538975309	chr16:34320571-34320572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376282443	chr16:34320573-34320574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539470568	chr16:34320587-34320588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557994980	chr16:34320593-34320594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186465342	chr16:34322812-34322813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs554312382	chr16:34322859-34322860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112199501	chr16:34322863-34322864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113475216	chr16:34322870-34322871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558815713	chr16:34322876-34322877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576596367	chr16:34322968-34322969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs191846125	chr16:34322971-34322972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369203506	chr16:34323083-34323084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs576199655	chr16:34323085-34323086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs575384182	chr16:34323119-34323120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs542999573	chr16:34323139-34323140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs182927905	chr16:34323159-34323160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs528490892	chr16:34323222-34323223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs546951338	chr16:34323272-34323273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs527490178	chr16:34323294-34323295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538146945	chr16:34323311-34323312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs146943612	chr16:34323333-34323334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370636494	chr16:34323338-34323339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34315800-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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