Variant report

Variant	nsv571825
Chromosome Location	chr16:31593770-31634528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:31620908-31621218	HepG2	liver:	n/a	chr16:31621045-31621056
2	CEBPB	chr16:31620982-31621195	A549	lung:	n/a	chr16:31621045-31621056
3	CEBPB	chr16:31620971-31621116	IMR90	lung:	n/a	chr16:31621045-31621056
4	CTCF	chr16:31600410-31600442	GM20000	blood:	n/a	n/a
5	CTCF	chr16:31607297-31607367	Gliobla	brain:	n/a	n/a
6	CTCF	chr16:31631227-31631322	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr16:31628612-31628648	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr16:31600140-31600290	HepG2	liver:	n/a	n/a
9	CTCF	chr16:31603780-31603930	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr16:31600528-31600591	Fibrobl	skin:	n/a	n/a
11	CTCF	chr16:31600080-31600230	HEK293	kidney:	n/a	n/a
12	CTCF	chr16:31600446-31600451	GM20000	blood:	n/a	n/a
13	E2F4	chr16:31613004-31613035	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr16:31603517-31603849	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr16:31603506-31603862	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr16:31603567-31603821	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr16:31618916-31618982	MCF-7	breast:	n/a	n/a
18	GATA3	chr16:31629999-31630136	SH-SY5Y	brain:	n/a	n/a
19	JUN	chr16:31603555-31603812	HepG2	liver:	n/a	n/a
20	JUN	chr16:31633417-31633457	HepG2	liver:	n/a	n/a
21	JUND	chr16:31603512-31604170	HepG2	liver:	n/a	chr16:31603678-31603689
22	KAP1	chr16:31612321-31614063	K562	blood:	n/a	chr16:31613994-31614002
23	KAP1	chr16:31613168-31613483	U2OS	brain:	n/a	n/a
24	MYC	chr16:31607759-31607800	K562	blood:	n/a	n/a
25	MYC	chr16:31607297-31607431	MCF-7	breast:	n/a	n/a
26	MYC	chr16:31600497-31600550	MCF-7	breast:	n/a	n/a
27	POLR2A	chr16:31626339-31626916	K562	blood:	n/a	n/a
28	POLR2A	chr16:31607321-31607437	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr16:31626092-31626100	K562	blood:	n/a	n/a
30	POLR2A	chr16:31607866-31607993	MCF-7	breast:	n/a	n/a
31	POLR2A	chr16:31627190-31627294	K562	blood:	n/a	n/a
32	POLR2A	chr16:31625608-31625728	K562	blood:	n/a	n/a
33	POLR2A	chr16:31629628-31631298	K562	blood:	n/a	n/a
34	POLR2A	chr16:31600497-31600578	A549	lung:	n/a	n/a
35	POLR2A	chr16:31628562-31629174	K562	blood:	n/a	n/a
36	POLR2A	chr16:31607835-31607863	MCF-7	breast:	n/a	n/a
37	POLR2A	chr16:31627769-31628338	K562	blood:	n/a	n/a
38	POLR2A	chr16:31599814-31599913	MCF-7	breast:	n/a	n/a
39	POLR2A	chr16:31607606-31607636	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:31600585-31600595	A549	lung:	n/a	n/a
41	POLR2A	chr16:31599717-31599912	Gliobla	brain:	n/a	n/a
42	POLR2A	chr16:31624670-31624700	K562	blood:	n/a	n/a
43	POLR2A	chr16:31633645-31633766	MCF-7	breast:	n/a	n/a
44	POLR2A	chr16:31631962-31633589	K562	blood:	n/a	n/a
45	POLR2A	chr16:31625046-31625074	K562	blood:	n/a	n/a
46	POLR2A	chr16:31634013-31634688	K562	blood:	n/a	n/a
47	POLR2A	chr16:31607573-31607785	MCF-7	breast:	n/a	n/a
48	POLR2A	chr16:31606873-31607053	MCF-7	breast:	n/a	n/a
49	RXRA	chr16:31607499-31607988	HepG2	liver:	n/a	chr16:31607690-31607704 chr16:31607689-31607698
50	SETDB1	chr16:31612619-31613814	U2OS	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31629167..31631052-chr16:31633702..31636647,2	K562	blood:
2	chr16:31629167..31631052-chr16:31633702..31636647,2	K562	blood:
3	chr16:31566968..31568774-chr16:31592560..31594234,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf58-6	chr16:31602915-31602937	NONHSAT141934
2	lnc-AHSP-3	chr16:31624494-31624840	NONHSAT141941
3	lnc-AHSP-4	chr16:31628780-31629709	expReg_chr16_4904_+
4	lnc-AHSP-3	chr16:31623102-31623212	NONHSAT141941
5	lnc-AHSP-3	chr16:31625243-31625276	NONHSAT141942
6	lnc-AHSP-3	chr16:31624712-31624816	NONHSAT141942
7	lnc-AHSP-3	chr16:31624171-31624294	NONHSAT141941
8	lnc-AHSP-3	chr16:31625713-31626173	NONHSAT141942
9	lnc-C16orf58-7	chr16:31612914-31614852	NONHSAT141940
10	lnc-AHSP-3	chr16:31624492-31624614	NONHSAT141942

No data

Variant related genes	Relation type
ZNF720P1	TF binding region

Extended variants
information (count: 242 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577403095	chr16:31602937-31602938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs370472990	chr16:31611851-31611852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574426185	chr16:31611864-31611865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373594966	chr16:31611902-31611903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535786993	chr16:31611931-31611932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376945144	chr16:31611987-31611988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557746000	chr16:31612069-31612070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7193024	chr16:31612108-31612109	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374011309	chr16:31612131-31612132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138419922	chr16:31612149-31612150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs192698841	chr16:31612169-31612170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184923777	chr16:31612189-31612190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539474346	chr16:31612194-31612195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374924090	chr16:31612200-31612201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs370629367	chr16:31612205-31612206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188471594	chr16:31612210-31612211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548262082	chr16:31612339-31612340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559867150	chr16:31612421-31612422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs578205072	chr16:31612494-31612495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150540485	chr16:31612528-31612529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12932965	chr16:31612552-31612553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563814504	chr16:31612597-31612598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578002469	chr16:31612598-31612599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139840415	chr16:31612642-31612643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540681717	chr16:31612720-31612721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs13332892	chr16:31612732-31612733	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149825987	chr16:31612779-31612780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35915139	chr16:31612803-31612804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368579606	chr16:31612809-31612810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192171660	chr16:31612830-31612831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539241149	chr16:31612832-31612833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551692610	chr16:31612843-31612844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569680530	chr16:31612929-31612930	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs144807854	chr16:31612943-31612944	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs199664080	chr16:31612944-31612945	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs554899589	chr16:31612961-31612962	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs573414911	chr16:31612979-31612980	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs534690255	chr16:31612982-31612983	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs371853685	chr16:31613017-31613018	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs184212024	chr16:31613054-31613055	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs578151662	chr16:31613068-31613069	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs115699043	chr16:31613108-31613109	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564057278	chr16:31613151-31613152	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs575962807	chr16:31613182-31613183	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375024570	chr16:31613229-31613230	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs543053767	chr16:31613230-31613231	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs201663137	chr16:31613248-31613249	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs199773992	chr16:31613249-31613250	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs189353050	chr16:31613253-31613254	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs11865800	chr16:31613277-31613278	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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
Lung cancer	18438408	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31611800-31615000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:31612000-31615200	ZNF genes & repeats	Liver	Liver
3	chr16:31613200-31615400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr16:31619400-31620000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:31619400-31620400	ZNF genes & repeats	Liver	Liver

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