Variant report

Variant	esv3392148
Chromosome Location	chr16:34255876-34258424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:489)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:34256760-34256910	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr16:34256763-34256918	LNCaP	prostate:	n/a	n/a
3	CTCF	chr16:34256741-34256880	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr16:34256740-34256890	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr16:34256720-34256870	A549	lung:	n/a	n/a
6	CTCF	chr16:34256740-34256890	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr16:34256720-34256870	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr16:34256492-34257002	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr16:34256717-34256931	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr16:34256804-34256825	K562	blood:	n/a	n/a
11	CTCF	chr16:34256720-34256870	HEK293	kidney:	n/a	n/a
12	CTCF	chr16:34256818-34256862	NHEK	skin:	n/a	n/a
13	CTCF	chr16:34256769-34256876	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr16:34256759-34256896	MCF-7	breast:	n/a	n/a
15	CTCF	chr16:34256643-34256981	T-47D	breast:	n/a	n/a
16	CTCF	chr16:34256775-34256882	MCF-7	breast:	n/a	n/a
17	CTCF	chr16:34256815-34256869	K562	blood:	n/a	n/a
18	RAD21	chr16:34256687-34256889	SK-N-SH_RA	brain:	n/a	n/a
19	RAD21	chr16:34256662-34257046	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr16:34256765-34257048	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr16:34256635-34256941	SK-N-SH_RA	brain:	n/a	n/a
22	SMC3	chr16:34256581-34256984	SK-N-SH	brain:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34258406-34258456	Hela-S3	cervix:	n/a
2	chr16:34258406-34258456	Hela-S3	cervix:	n/a
3	chr16:34256428-34256478	HUVEC	blood vessel:	n/a
4	chr16:34257432-34257482	HL-60	blood:	n/a
5	chr16:34257432-34257482	HRCEpiC	kidney:	n/a
6	chr16:34257432-34257482	HCT-116	colon:	n/a
7	chr16:34256776-34256826	BE2_C	brain:	n/a
8	chr16:34257432-34257482	IMR90	lung:	fetal
9	chr16:34257574-34257624	HIPEpiC	eye:	n/a
10	chr16:34257170-34257220	NHBE	bronchial:	n/a
11	chr16:34257574-34257624	PANC-1	pancreas:	n/a
12	chr16:34258406-34258456	CMK	blood:	n/a
13	chr16:34257432-34257482	HRE	kidney:	n/a
14	chr16:34257749-34257799	HNPCEpiC	eye:	n/a
15	chr16:34258406-34258456	HNPCEpiC	eye:	n/a
16	chr16:34258406-34258456	GM12878	blood:	n/a
17	chr16:34258406-34258456	BJ	skin:	n/a
18	chr16:34257170-34257220	MCF-7	breast:	n/a
19	chr16:34257432-34257482	HepG2	liver:	n/a
20	chr16:34256776-34256826	HPAEpiC	pulmonary alveolar:	n/a
21	chr16:34257574-34257624	MCF-7	breast:	n/a
22	chr16:34257170-34257220	PANC-1	pancreas:	n/a
23	chr16:34257432-34257482	GM12892	blood:	n/a
24	chr16:34257170-34257220	AG09309	skin:	n/a
25	chr16:34258406-34258456	NB4	blood:	n/a
26	chr16:34256776-34256826	GM19239	blood:	n/a
27	chr16:34257432-34257482	HCM	heart:	n/a
28	chr16:34256290-34256340	HEEpiC	esophagus:	n/a
29	chr16:34256290-34256340	A549	lung:	n/a
30	chr16:34257749-34257799	IMR90	lung:	fetal
31	chr16:34258406-34258456	AG09319	gingival:	n/a
32	chr16:34256428-34256478	Caco-2	colon:	n/a
33	chr16:34257170-34257220	GM06990	blood:	n/a
34	chr16:34256428-34256478	SK-N-SH_RA	brain:	n/a
35	chr16:34257574-34257624	GM06990	blood:	n/a
36	chr16:34256776-34256826	MCF10A-Er-Src	breast:	n/a
37	chr16:34256776-34256826	AG10803	skin:	n/a
38	chr16:34257170-34257220	SAEC	small airway:	n/a
39	chr16:34257170-34257220	HAEpiC	amniotic membrane:	n/a
40	chr16:34256290-34256340	U87	brain:	n/a
41	chr16:34256290-34256340	HRPEpiC	eye:	n/a
42	chr16:34256428-34256478	HMEC	breast:	n/a
43	chr16:34257749-34257799	LNCaP	prostate:	n/a
44	chr16:34257170-34257220	SK-N-SH	brain:	n/a
45	chr16:34256776-34256826	HEK293	kidney:	embryo
46	chr16:34256428-34256478	AG10803	skin:	n/a
47	chr16:34256290-34256340	SK-N-SH	brain:	n/a
48	chr16:34256290-34256340	NB4	blood:	n/a
49	chr16:34257170-34257220	PrEC	prostate:	n/a
50	chr16:34257432-34257482	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:34256831..34259830-chr17:41380416..41383304,2	K562	blood:

No data

Variant related genes	Relation type
CCNYL3	TF binding region
ENSG00000179755	TF binding region
ENSG00000262885	TF binding region
CCNYL3	CpG island
ENSG00000179755	CpG island
ENSG00000262885	CpG island
ENSG00000236383	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538121993	chr16:34256306-34256307	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
2	rs556448115	chr16:34256325-34256326	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs574644170	chr16:34256335-34256336	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs546607861	chr16:34256450-34256451	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs553577769	chr16:34256471-34256472	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs537066171	chr16:34256500-34256501	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs181479740	chr16:34256514-34256515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564079561	chr16:34256540-34256541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531347860	chr16:34256642-34256643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543701994	chr16:34256681-34256682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561968122	chr16:34256704-34256705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs529100432	chr16:34256742-34256743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114186820	chr16:34256752-34256753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566837258	chr16:34256755-34256756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs376400447	chr16:34256801-34256802	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs12934382	chr16:34256808-34256809	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs528684345	chr16:34256842-34256843	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148879092	chr16:34256882-34256883	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs1019991	chr16:34257013-34257014	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs373892370	chr16:34257024-34257025	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568329659	chr16:34257067-34257068	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568454796	chr16:34257089-34257090	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535657021	chr16:34257098-34257099	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554370343	chr16:34257199-34257200	ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572571031	chr16:34257209-34257210	ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535354131	chr16:34257210-34257211	ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372459313	chr16:34257247-34257248	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115084685	chr16:34257273-34257274	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142539350	chr16:34257303-34257304	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576062500	chr16:34257304-34257305	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543492880	chr16:34257333-34257334	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186420841	chr16:34257365-34257366	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9922743	chr16:34257369-34257370	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201151030	chr16:34257379-34257380	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573913641	chr16:34257406-34257407	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147588003	chr16:34257458-34257459	ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs559471566	chr16:34257491-34257492	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9922854	chr16:34257536-34257537	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111376821	chr16:34257573-34257574	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7192991	chr16:34257578-34257579	ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564286931	chr16:34257629-34257630	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531588013	chr16:34257642-34257643	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529373985	chr16:34257716-34257717	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6563883	chr16:34257837-34257838	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568926812	chr16:34257917-34257918	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536920181	chr16:34257961-34257962	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566221790	chr16:34257966-34257967	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9925286	chr16:34257975-34257976	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189307710	chr16:34257978-34257979	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576247650	chr16:34258107-34258108	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34257000-34257600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:34257400-34258200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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