Variant report

Variant	nsv431511
Chromosome Location	chr16:65213149-65252673
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	CEBPB	chr16:65234772-65235134	IMR90	lung:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
2	CEBPB	chr16:65234788-65235063	K562	blood:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
3	CEBPB	chr16:65248130-65248461	IMR90	lung:	n/a	chr16:65248193-65248204 chr16:65248193-65248204 chr16:65248269-65248281
4	CEBPB	chr16:65234774-65235134	HepG2	liver:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
5	CEBPB	chr16:65234791-65235106	A549	lung:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
6	CEBPB	chr16:65234791-65235118	Hela-S3	cervix:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
7	CHD1	chr16:65226353-65226810	IMR90	lung:	n/a	n/a
8	CTCF	chr16:65215069-65215127	ProgFib	skin:	n/a	n/a
9	CTCF	chr16:65215020-65215170	BJ	skin:	n/a	n/a
10	CTCF	chr16:65215040-65215190	AG10803	skin:	n/a	n/a
11	CTCF	chr16:65215000-65215150	AG09319	gingival:	n/a	n/a
12	CTCF	chr16:65215000-65215150	AG04449	skin:	n/a	n/a
13	CTCF	chr16:65215140-65215290	HFF	foreskin:	n/a	n/a
14	CTCF	chr16:65229981-65230069	MCF-7	breast:	n/a	n/a
15	CTCF	chr16:65215120-65215270	HCM	heart:	n/a	n/a
16	CTCF	chr16:65252280-65252430	WERI-Rb-1	eye:	n/a	chr16:65252389-65252398
17	CTCF	chr16:65215040-65215190	BJ	skin:	n/a	n/a
18	CTCF	chr16:65229950-65230111	MCF-7	breast:	n/a	n/a
19	CTCF	chr16:65215040-65215190	HPF	lung:	n/a	n/a
20	CTCF	chr16:65214940-65215090	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr16:65214980-65215130	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr16:65214980-65215130	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr16:65215060-65215210	Caco-2	colon:	n/a	n/a
24	CTCF	chr16:65252312-65252423	H1-hESC	embryonic stem cell:	n/a	chr16:65252389-65252398
25	CTCF	chr16:65215040-65215190	AG09319	gingival:	n/a	n/a
26	CTCF	chr16:65215120-65215270	AG09309	skin:	n/a	n/a
27	CTCF	chr16:65229920-65230170	NHEK	skin:	n/a	n/a
28	CTCF	chr16:65215100-65215250	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr16:65236580-65236730	HMF	breast:	n/a	n/a
30	CTCF	chr16:65215073-65215138	Lung_OC	lung:	n/a	n/a
31	CTCF	chr16:65215060-65215210	HVMF	connective:	n/a	n/a
32	CTCF	chr16:65214960-65215110	HFF	foreskin:	n/a	n/a
33	CTCF	chr16:65229974-65230085	NHEK	skin:	n/a	n/a
34	CTCF	chr16:65215060-65215210	HAc	cerebellar:	n/a	n/a
35	CTCF	chr16:65215020-65215170	AG04449	skin:	n/a	n/a
36	CTCF	chr16:65229880-65230030	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr16:65214960-65215110	NHLF	lung:	n/a	n/a
38	CTCF	chr16:65215060-65215210	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr16:65215000-65215150	HPF	lung:	n/a	n/a
40	CTCF	chr16:65215040-65215190	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr16:65236480-65236630	AG04450	lung:	n/a	n/a
42	CTCF	chr16:65229920-65230070	AG04449	skin:	n/a	n/a
43	CTCF	chr16:65215000-65215150	HMF	breast:	n/a	n/a
44	CTCF	chr16:65215080-65215230	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr16:65227680-65227744	GM10266	blood:	n/a	n/a
46	CTCF	chr16:65236540-65236690	AG09309	skin:	n/a	n/a
47	CTCF	chr16:65215000-65215150	AG04450	lung:	n/a	n/a
48	CTCF	chr16:65229940-65230090	AG04449	skin:	n/a	n/a
49	CTCF	chr16:65215040-65215190	HMF	breast:	n/a	n/a
50	CTCF	chr16:65229900-65230050	HCPEpiC	choroid plexus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:65236094-65236144	HRPEpiC	eye:	n/a
2	chr16:65236094-65236144	PFSK-1	brain:	n/a
3	chr16:65236094-65236144	HRE	kidney:	n/a
4	chr16:65236094-65236144	AoSMC	blood vessel:	n/a
5	chr16:65236094-65236144	AG09319	gingival:	n/a
6	chr16:65236094-65236144	PrEC	prostate:	n/a
7	chr16:65236094-65236144	NHBE	bronchial:	n/a
8	chr16:65236094-65236144	HRCEpiC	kidney:	n/a
9	chr16:65236094-65236144	AG10803	skin:	n/a
10	chr16:65236094-65236144	BJ	skin:	n/a
11	chr16:65236094-65236144	HUVEC	blood vessel:	n/a
12	chr16:65236094-65236144	HepG2	liver:	n/a
13	chr16:65236094-65236144	AG04449	skin:	fetal
14	chr16:65236094-65236144	GM12878	blood:	n/a
15	chr16:65236094-65236144	U87	brain:	n/a
16	chr16:65236094-65236144	ECC-1	luminal epithelium:	n/a
17	chr16:65236094-65236144	MCF-7	breast:	n/a
18	chr16:65236094-65236144	HEK293	kidney:	embryo
19	chr16:65236094-65236144	HAEpiC	amniotic membrane:	n/a
20	chr16:65236094-65236144	GM12891	blood:	n/a
21	chr16:65236094-65236144	MCF10A-Er-Src	breast:	n/a
22	chr16:65236094-65236144	RPTEC	kidney:	n/a
23	chr16:65236094-65236144	NH-A	brain:	n/a
24	chr16:65236094-65236144	SAEC	small airway:	n/a
25	chr16:65236094-65236144	PANC-1	pancreas:	n/a
26	chr16:65236094-65236144	ovcar-3	ovarian:	n/a
27	chr16:65236094-65236144	T-47D	breast:	n/a
28	chr16:65236094-65236144	HNPCEpiC	eye:	n/a
29	chr16:65236094-65236144	Hepatocyte	liver:	n/a
30	chr16:65236094-65236144	IMR90	lung:	fetal
31	chr16:65236094-65236144	K562	blood:	n/a
32	chr16:65236094-65236144	BE2_C	brain:	n/a
33	chr16:65236094-65236144	HIPEpiC	eye:	n/a
34	chr16:65236094-65236144	LNCaP	prostate:	n/a
35	chr16:65236094-65236144	AG09309	skin:	n/a
36	chr16:65236094-65236144	NT2-D1	testis:	n/a
37	chr16:65236094-65236144	SKMC	muscle:	n/a
38	chr16:65236094-65236144	HCPEpiC	choroid plexus:	n/a
39	chr16:65236094-65236144	Hela-S3	cervix:	n/a
40	chr16:65236094-65236144	HL-60	blood:	n/a
41	chr16:65236094-65236144	HCM	heart:	n/a
42	chr16:65236094-65236144	NB4	blood:	n/a
43	chr16:65236094-65236144	AG04450	lung:	fetal
44	chr16:65236094-65236144	CMK	blood:	n/a
45	chr16:65236094-65236144	SK-N-SH_RA	brain:	n/a
46	chr16:65236094-65236144	NHDF-neo	bronchial:	n/a
47	chr16:65236094-65236144	ProgFib	skin:	n/a
48	chr16:65236094-65236144	H1-hESC	embryonic stem cell:	embryo
49	chr16:65236094-65236144	HMEC	breast:	n/a
50	chr16:65236094-65236144	Jurkat	blood:	n/a

Variant related genes	Relation type
ENSG00000259847	TF binding region
ENSG00000259847	CpG island

Extended variants
information (count: 834 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2113176	chr16:65213149-65213150	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562247391	chr16:65213159-65213160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575865744	chr16:65213169-65213170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368851918	chr16:65213170-65213171	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544417127	chr16:65213179-65213180	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564372375	chr16:65213225-65213226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146578913	chr16:65213272-65213273	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539984157	chr16:65213287-65213288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572031734	chr16:65213317-65213318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528887148	chr16:65213355-65213356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188556923	chr16:65213383-65213384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1423780	chr16:65213406-65213407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs1423781	chr16:65213460-65213461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140909947	chr16:65213534-65213535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571514577	chr16:65213581-65213582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533966311	chr16:65213589-65213590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191656066	chr16:65213630-65213631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4344745	chr16:65213651-65213652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs150198296	chr16:65213665-65213666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138628070	chr16:65213666-65213667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575532894	chr16:65213669-65213670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544530615	chr16:65213715-65213716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184003835	chr16:65213798-65213799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149320334	chr16:65213802-65213803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540384250	chr16:65213818-65213819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113632302	chr16:65213893-65213894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528950713	chr16:65213897-65213898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533476670	chr16:65213956-65213957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542343905	chr16:65213983-65213984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138113652	chr16:65214033-65214034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1469118	chr16:65214073-65214074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376799865	chr16:65214076-65214077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143671675	chr16:65214089-65214090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11647408	chr16:65214103-65214104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs147155822	chr16:65214109-65214110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547540190	chr16:65214119-65214120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148639258	chr16:65214124-65214125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11647522	chr16:65214125-65214126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368002373	chr16:65214130-65214131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368641247	chr16:65214182-65214183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs876020	chr16:65214183-65214184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77017907	chr16:65214193-65214194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558036123	chr16:65214239-65214240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577891742	chr16:65214261-65214262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540445062	chr16:65214273-65214274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536335667	chr16:65214284-65214285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs876021	chr16:65214308-65214309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs542756406	chr16:65214312-65214313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188900262	chr16:65214365-65214366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62042986	chr16:65214396-65214397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65210000-65215600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:65211000-65215800	Weak transcription	Fetal Kidney	kidney
3	chr16:65211200-65214600	Weak transcription	Adipose Nuclei	Adipose
4	chr16:65211200-65214800	Weak transcription	HSMMtube	muscle
5	chr16:65211800-65214600	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:65212000-65215600	Weak transcription	HSMM	muscle
7	chr16:65212400-65214600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:65212400-65214600	Weak transcription	Ovary	ovary
9	chr16:65212400-65215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:65212600-65214600	Weak transcription	Fetal Lung	lung
11	chr16:65212600-65214600	Weak transcription	Fetal Stomach	stomach
12	chr16:65212600-65215000	Weak transcription	Osteobl	bone
13	chr16:65212600-65215800	Weak transcription	NHDF-Ad	bronchial
14	chr16:65213000-65214800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:65214600-65215000	Enhancers	Brain Angular Gyrus	brain
16	chr16:65214600-65215000	Enhancers	Brain Hippocampus Middle	brain
17	chr16:65214600-65215000	Flanking Active TSS	Fetal Lung	lung
18	chr16:65214600-65215000	Enhancers	Fetal Stomach	stomach
19	chr16:65214600-65215800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:65214600-65215800	Enhancers	Adipose Nuclei	Adipose
21	chr16:65214600-65216400	Enhancers	Fetal Muscle Leg	muscle
22	chr16:65214600-65216400	Enhancers	Ovary	ovary
23	chr16:65214800-65215200	Enhancers	Brain Substantia Nigra	brain
24	chr16:65214800-65215800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:65214800-65216000	Enhancers	HSMMtube	muscle
26	chr16:65215000-65215400	Active TSS	Fetal Lung	lung
27	chr16:65215000-65215600	Enhancers	Osteobl	bone
28	chr16:65215000-65219000	Weak transcription	Fetal Stomach	stomach
29	chr16:65215000-65219200	Weak transcription	Brain Angular Gyrus	brain
30	chr16:65215200-65215600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:65215400-65215800	Enhancers	Fetal Lung	lung
32	chr16:65215600-65215800	Enhancers	HSMM	muscle
33	chr16:65215600-65216000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr16:65215800-65216000	Enhancers	Fetal Kidney	kidney
35	chr16:65215800-65216000	Flanking Active TSS	Fetal Lung	lung
36	chr16:65215800-65216000	Enhancers	NHDF-Ad	bronchial
37	chr16:65216000-65216200	Enhancers	Fetal Lung	lung
38	chr16:65216000-65216400	Weak transcription	Fetal Kidney	kidney
39	chr16:65216400-65216800	Enhancers	Fetal Kidney	kidney
40	chr16:65216400-65218000	Weak transcription	Ovary	ovary
41	chr16:65216400-65218400	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:65218000-65219800	Enhancers	Ovary	ovary
43	chr16:65218200-65218400	Enhancers	Right Atrium	heart
44	chr16:65218400-65219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr16:65218400-65219600	Enhancers	Fetal Muscle Leg	muscle
46	chr16:65219000-65219400	Enhancers	Fetal Stomach	stomach
47	chr16:65219000-65219600	Enhancers	Colon Smooth Muscle	Colon
48	chr16:65219000-65219600	Enhancers	Right Atrium	heart
49	chr16:65219200-65219600	Enhancers	Brain Angular Gyrus	brain
50	chr16:65219800-65220400	Weak transcription	Ovary	ovary

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