Variant report

Variant	nsv984326
Chromosome Location	chr16:34294520-34320219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:34296958-34297110	A549	lung:	n/a	n/a
2	CTCF	chr16:34303522-34303581	GM20000	blood:	n/a	n/a
3	CTCF	chr16:34299380-34299530	NHEK	skin:	n/a	chr16:34299443-34299451 chr16:34299443-34299464 chr16:34299441-34299459 chr16:34299467-34299480 chr16:34299444-34299457
4	CTCF	chr16:34299340-34299490	HMEC	breast:	n/a	chr16:34299443-34299451 chr16:34299443-34299464 chr16:34299441-34299459 chr16:34299467-34299480 chr16:34299444-34299457
5	CTCF	chr16:34301640-34301790	WI-38	lung:	n/a	n/a
6	CTCF	chr16:34309142-34309158	Medullo	brain:	n/a	n/a
7	CTCF	chr16:34299320-34299470	WERI-Rb-1	eye:	n/a	chr16:34299443-34299451 chr16:34299443-34299464 chr16:34299441-34299459 chr16:34299444-34299457
8	CTCF	chr16:34306019-34306079	LNCaP	prostate:	n/a	n/a
9	CTCF	chr16:34303282-34303311	GM10248	blood:	n/a	n/a
10	FOSL2	chr16:34309600-34309793	HepG2	liver:	n/a	n/a
11	FOXA1	chr16:34309529-34309929	HepG2	liver:	n/a	n/a
12	FOXA2	chr16:34309630-34309910	A549	lung:	n/a	n/a
13	FOXA2	chr16:34309480-34309975	A549	lung:	n/a	n/a
14	HEY1	chr16:34309605-34309853	K562	blood:	n/a	n/a
15	JUND	chr16:34309678-34309834	HepG2	liver:	n/a	n/a
16	KAP1	chr16:34303363-34303567	K562	blood:	n/a	n/a
17	MYC	chr16:34302418-34302439	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr16:34309612-34309833	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr16:34305766-34305816	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr16:34302489-34302529	MCF-7	breast:	n/a	n/a
21	POLR2A	chr16:34309471-34309792	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr16:34309616-34309841	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr16:34302347-34302488	MCF-7	breast:	n/a	n/a
24	POLR2A	chr16:34318756-34318791	MCF10A-Er-Src	breast:	n/a	n/a
25	SETDB1	chr16:34303193-34303460	U2OS	brain:	n/a	n/a
26	SP1	chr16:34309615-34309918	HepG2	liver:	n/a	n/a
27	TAF1	chr16:34309568-34309865	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr16:34309687-34309851	GM12892	blood:	n/a	n/a
29	TCF12	chr16:34309612-34309846	HepG2	liver:	n/a	n/a
30	ZBTB33	chr16:34309729-34309793	HepG2	liver:	n/a	n/a
31	ZNF143	chr16:34303222-34303422	H1-hESC	embryonic stem cell:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34299638-34299688	ECC-1	luminal epithelium:	n/a
2	chr16:34299638-34299688	ECC-1	luminal epithelium:	n/a
3	chr16:34299638-34299688	Jurkat	blood:	n/a
4	chr16:34299638-34299688	Hepatocyte	liver:	n/a
5	chr16:34295377-34295427	BJ	skin:	n/a
6	chr16:34296306-34296356	GM19239	blood:	n/a
7	chr16:34295377-34295427	GM12878	blood:	n/a
8	chr16:34296108-34296158	BE2_C	brain:	n/a
9	chr16:34295377-34295427	HRCEpiC	kidney:	n/a
10	chr16:34296108-34296158	GM06990	blood:	n/a
11	chr16:34295778-34295828	A549	lung:	n/a
12	chr16:34295778-34295828	HCF	heart:	n/a
13	chr16:34295916-34295966	AG09319	gingival:	n/a
14	chr16:34296306-34296356	U87	brain:	n/a
15	chr16:34295916-34295966	HAEpiC	amniotic membrane:	n/a
16	chr16:34295778-34295828	HIPEpiC	eye:	n/a
17	chr16:34295916-34295966	MCF10A-Er-Src	breast:	n/a
18	chr16:34296306-34296356	HRE	kidney:	n/a
19	chr16:34295778-34295828	BE2_C	brain:	n/a
20	chr16:34295778-34295828	GM06990	blood:	n/a
21	chr16:34299638-34299688	AG10803	skin:	n/a
22	chr16:34296306-34296356	BE2_C	brain:	n/a
23	chr16:34295377-34295427	AoSMC	blood vessel:	n/a
24	chr16:34296108-34296158	AG04450	lung:	fetal
25	chr16:34296108-34296158	HNPCEpiC	eye:	n/a
26	chr16:34299638-34299688	AG04449	skin:	fetal
27	chr16:34295778-34295828	AG04450	lung:	fetal
28	chr16:34295778-34295828	SK-N-SH	brain:	n/a
29	chr16:34299638-34299688	HPAEpiC	pulmonary alveolar:	n/a
30	chr16:34296306-34296356	LNCaP	prostate:	n/a
31	chr16:34295916-34295966	HPAEpiC	pulmonary alveolar:	n/a
32	chr16:34299638-34299688	BJ	skin:	n/a
33	chr16:34295778-34295828	SK-N-SH_RA	brain:	n/a
34	chr16:34296108-34296158	K562	blood:	n/a
35	chr16:34299638-34299688	GM12891	blood:	n/a
36	chr16:34295916-34295966	AG04449	skin:	fetal
37	chr16:34295778-34295828	PrEC	prostate:	n/a
38	chr16:34295916-34295966	NT2-D1	testis:	n/a
39	chr16:34295377-34295427	PFSK-1	brain:	n/a
40	chr16:34295377-34295427	AG10803	skin:	n/a
41	chr16:34295778-34295828	CMK	blood:	n/a
42	chr16:34296306-34296356	NHDF-neo	bronchial:	n/a
43	chr16:34296306-34296356	NB4	blood:	n/a
44	chr16:34295377-34295427	PANC-1	pancreas:	n/a
45	chr16:34299638-34299688	H1-hESC	embryonic stem cell:	embryo
46	chr16:34295916-34295966	ProgFib	skin:	n/a
47	chr16:34295377-34295427	SK-N-SH_RA	brain:	n/a
48	chr16:34296306-34296356	K562	blood:	n/a
49	chr16:34299638-34299688	AG09309	skin:	n/a
50	chr16:34295377-34295427	GM12892	blood:	n/a

No data

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

Extended variants
information (count: 565 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551496929	chr16:34299006-34299007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555044586	chr16:34299020-34299021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376201354	chr16:34299021-34299022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563977235	chr16:34299033-34299034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573839877	chr16:34299052-34299053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544181953	chr16:34299072-34299073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192594067	chr16:34299080-34299081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567562746	chr16:34299122-34299123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577776936	chr16:34299138-34299139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140628939	chr16:34299182-34299183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184417840	chr16:34299194-34299195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571140779	chr16:34299210-34299211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150451222	chr16:34299232-34299233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187479431	chr16:34299282-34299283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs569092989	chr16:34299301-34299302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370245575	chr16:34299359-34299360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs536589920	chr16:34299400-34299401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559792930	chr16:34299419-34299420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192031525	chr16:34299546-34299547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34704843	chr16:34299547-34299548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs573100901	chr16:34299548-34299549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375434575	chr16:34299591-34299592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs541520520	chr16:34299617-34299618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553396356	chr16:34299621-34299622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184849419	chr16:34299638-34299639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs578048501	chr16:34299701-34299702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs415001	chr16:34299702-34299703	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563545475	chr16:34299763-34299764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544544067	chr16:34299766-34299767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542962750	chr16:34299770-34299771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542204247	chr16:34299771-34299772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368537111	chr16:34299772-34299773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561126825	chr16:34299784-34299785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560559587	chr16:34299794-34299795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531982633	chr16:34299810-34299811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550226846	chr16:34299831-34299832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571945679	chr16:34299840-34299841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546895929	chr16:34299845-34299846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571293462	chr16:34299870-34299871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111424205	chr16:34299879-34299880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs190373214	chr16:34299906-34299907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs180911638	chr16:34299911-34299912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184166465	chr16:34299976-34299977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566171101	chr16:34299988-34299989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536754642	chr16:34300016-34300017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs372247990	chr16:34300083-34300084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554934954	chr16:34300099-34300100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554957208	chr16:34300104-34300105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374816415	chr16:34300122-34300123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569972080	chr16:34300128-34300129	ZNF genes & repeats	n/a	n/a	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
T-cell prolymphocytic leukemia	19278963	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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34299000-34299600	ZNF genes & repeats	Spleen	Spleen
2	chr16:34299000-34303000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
3	chr16:34299000-34303200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:34300000-34304400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:34301000-34301200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:34301200-34301600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr16:34301800-34302800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:34302000-34305400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr16:34302200-34302800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
10	chr16:34309600-34310000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr16:34315800-34316000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:34315800-34316600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr16:34315800-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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