Variant report

Variant	nsv833284
Chromosome Location	chr16:76057741-76205989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:370)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr16:76198817-76199366	GM12878	blood:	n/a	n/a
2	BHLHE40	chr16:76199039-76199164	GM12878	blood:	n/a	n/a
3	CEBPB	chr16:76157892-76158146	HepG2	liver:	n/a	chr16:76158029-76158040
4	CEBPB	chr16:76118848-76118872	HepG2	liver:	n/a	chr16:76118853-76118864
5	CEBPB	chr16:76133726-76133859	HepG2	liver:	n/a	chr16:76133788-76133799
6	CEBPB	chr16:76148545-76148883	HepG2	liver:	n/a	chr16:76148705-76148716
7	CEBPB	chr16:76157831-76158205	MCF-7	breast:	n/a	chr16:76158029-76158040
8	CEBPB	chr16:76157877-76158203	MCF-7	breast:	n/a	chr16:76158029-76158040
9	CEBPB	chr16:76157853-76158224	H1-hESC	embryonic stem cell:	n/a	chr16:76158029-76158040
10	CEBPB	chr16:76157851-76158221	HepG2	liver:	n/a	chr16:76158029-76158040
11	CEBPB	chr16:76200649-76200884	HepG2	liver:	n/a	n/a
12	CEBPB	chr16:76148114-76148326	HepG2	liver:	n/a	chr16:76148205-76148216
13	CEBPB	chr16:76109858-76109887	A549	lung:	n/a	n/a
14	CEBPB	chr16:76159866-76160102	MCF-7	breast:	n/a	chr16:76159936-76159949
15	CEBPB	chr16:76157884-76158214	K562	blood:	n/a	chr16:76158029-76158040
16	CEBPB	chr16:76157854-76158207	IMR90	lung:	n/a	chr16:76158029-76158040
17	CEBPB	chr16:76148587-76148863	IMR90	lung:	n/a	chr16:76148705-76148716
18	CEBPB	chr16:76190498-76190826	HepG2	liver:	n/a	n/a
19	CEBPB	chr16:76148575-76148856	A549	lung:	n/a	chr16:76148705-76148716
20	CEBPB	chr16:76190493-76190837	IMR90	lung:	n/a	n/a
21	CEBPB	chr16:76157859-76158197	A549	lung:	n/a	chr16:76158029-76158040
22	CEBPB	chr16:76190511-76190776	A549	lung:	n/a	n/a
23	CEBPB	chr16:76157843-76158213	Hela-S3	cervix:	n/a	chr16:76158029-76158040
24	CEBPB	chr16:76172099-76172368	MCF-7	breast:	n/a	n/a
25	CHD2	chr16:76191853-76191884	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr16:76191560-76191710	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr16:76142316-76142440	HepG2	liver:	n/a	n/a
28	CTCF	chr16:76191620-76191770	GM12873	blood:	n/a	n/a
29	CTCF	chr16:76142280-76142430	HEK293	kidney:	n/a	n/a
30	CTCF	chr16:76191649-76191761	GM12878	blood:	n/a	n/a
31	CTCF	chr16:76191684-76191687	K562	blood:	n/a	n/a
32	CTCF	chr16:76191654-76191727	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr16:76191682-76191768	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr16:76191670-76191781	MCF-7	breast:	n/a	n/a
35	CTCF	chr16:76142273-76142419	HepG2	liver:	n/a	n/a
36	CTCF	chr16:76191580-76191730	GM12872	blood:	n/a	n/a
37	CTCF	chr16:76191660-76191810	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr16:76191640-76191790	HEK293	kidney:	n/a	n/a
39	CTCF	chr16:76191620-76191770	GM12871	blood:	n/a	n/a
40	CTCF	chr16:76191660-76191810	Caco-2	colon:	n/a	n/a
41	CTCF	chr16:76065533-76065595	LNCaP	prostate:	n/a	n/a
42	CTCF	chr16:76142280-76142430	GM12874	blood:	n/a	n/a
43	CTCF	chr16:76191620-76191770	GM12866	blood:	n/a	n/a
44	CTCF	chr16:76142240-76142390	HepG2	liver:	n/a	n/a
45	CTCF	chr16:76191627-76191863	GM12878	blood:	n/a	n/a
46	CTCF	chr16:76191700-76191850	GM12873	blood:	n/a	n/a
47	CTCF	chr16:76191540-76191690	HMEC	breast:	n/a	n/a
48	CTCF	chr16:76191629-76191759	LNCaP	prostate:	n/a	n/a
49	CTCF	chr16:76138235-76138498	K562	blood:	n/a	n/a
50	CTCF	chr16:76138182-76138486	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76109470..76111074-chr16:76115250..76116774,2	MCF-7	breast:
2	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:
3	chr16:76109470..76111074-chr16:76115250..76116774,2	MCF-7	breast:
4	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
5	chr16:76152673..76155052-chr16:76163507..76166139,2	K562	blood:
6	chr16:76152673..76155052-chr16:76163507..76166139,2	K562	blood:
7	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:
8	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:
9	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:
10	chr16:76150031..76151626-chr16:76156509..76159199,2	MCF-7	breast:
11	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
12	chr16:76150031..76151626-chr16:76156509..76159199,2	MCF-7	breast:
13	chr16:76076451..76078848-chr2:55275762..55278542,2	MCF-7	breast:
14	chr16:76138800..76139300-chr7:100952476..100953045,3	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-2	chr16:76169538-76169877	XLOC_012013
2	lnc-AC025287.1-2	chr16:76181458-76181677	ENSG00000260223.1
3	lnc-AC025287.1-2	chr16:76181458-76181704	ENSG00000260223.1
4	lnc-AC025287.1-2	chr16:76169537-76169877	NONHSAT143772
5	lnc-AC025287.1-2	chr16:76170020-76170263	ENSG00000260223.1
6	lnc-AC025287.1-2	chr16:76181454-76181621	XLOC_012013
7	lnc-AC025287.1-2	chr16:76142134-76142240	ENSG00000260223.1
8	lnc-AC025287.1-2	chr16:76181453-76181621	NONHSAT143772
9	lnc-AC025287.1-2	chr16:76141181-76141401	ENSG00000260223.1
10	lnc-AC025287.1-2	chr16:76174260-76174301	ENSG00000260223.1

No data

Variant related genes	Relation type
ENSG00000260223	TF binding region
ENSG00000115310	chromatin interactions

Extended variants
information (count: 4289 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:4289 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570326917	chr16:76057765-76057766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7197781	chr16:76057766-76057767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547537223	chr16:76057798-76057799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114159941	chr16:76057803-76057804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192254242	chr16:76057821-76057822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556302990	chr16:76057825-76057826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576371809	chr16:76057838-76057839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34036844	chr16:76057839-76057840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532052049	chr16:76057854-76057855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146102789	chr16:76057855-76057856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374096075	chr16:76057871-76057872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182667335	chr16:76057922-76057923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373699898	chr16:76057940-76057941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540438467	chr16:76057981-76057982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552112784	chr16:76057991-76057992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577232921	chr16:76057997-76057998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79771864	chr16:76058015-76058016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562377433	chr16:76058051-76058052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531326038	chr16:76058067-76058068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534379610	chr16:76058148-76058149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548026853	chr16:76058209-76058210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187660997	chr16:76058219-76058220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575791819	chr16:76058221-76058222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547598152	chr16:76058230-76058231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371256019	chr16:76058293-76058294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77962816	chr16:76058346-76058347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143635780	chr16:76058409-76058410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550441621	chr16:76058470-76058471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570001512	chr16:76058477-76058478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567941823	chr16:76058481-76058482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536843892	chr16:76058512-76058513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192815190	chr16:76058539-76058540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75396906	chr16:76058544-76058545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146874566	chr16:76058560-76058561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368620892	chr16:76058561-76058562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184016415	chr16:76058573-76058574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577095783	chr16:76058587-76058588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113952769	chr16:76061201-76061202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78528240	chr16:76061202-76061203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530102701	chr16:76061204-76061205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115587370	chr16:76061209-76061210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564803482	chr16:76061246-76061247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565516547	chr16:76061265-76061266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534635384	chr16:76061334-76061335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528812239	chr16:76061380-76061381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551378121	chr16:76061423-76061424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547287549	chr16:76061438-76061439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563879609	chr16:76061462-76061463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536644872	chr16:76061474-76061475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556874828	chr16:76061478-76061479	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76057400-76057800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:76057600-76057800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:76057800-76058200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:76058200-76058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:76061200-76061800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:76068200-76071000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:76068800-76069400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:76069400-76071200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:76071000-76071600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:76071600-76098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:76083000-76083200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:76090600-76091200	Active TSS	HMEC	breast
13	chr16:76091200-76092400	Weak transcription	HMEC	breast
14	chr16:76092400-76094600	Enhancers	HMEC	breast
15	chr16:76093000-76093400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr16:76093200-76093800	Enhancers	Brain Substantia Nigra	brain
17	chr16:76093200-76094400	Enhancers	Brain Hippocampus Middle	brain
18	chr16:76094200-76095000	Enhancers	Brain Germinal Matrix	brain
19	chr16:76094600-76098400	Weak transcription	HMEC	breast
20	chr16:76095000-76098400	Weak transcription	Brain Germinal Matrix	brain
21	chr16:76095400-76097400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:76096000-76096800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:76096000-76096800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr16:76096200-76097000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr16:76096400-76096800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr16:76096600-76097000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr16:76097400-76098600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:76098400-76099000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:76098400-76099400	Enhancers	HMEC	breast
30	chr16:76098600-76099200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:76099000-76105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:76099400-76103400	Weak transcription	HMEC	breast
33	chr16:76105200-76105400	Weak transcription	HMEC	breast
34	chr16:76105600-76106000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:76106000-76115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:76109000-76109600	Enhancers	Brain Germinal Matrix	brain
37	chr16:76109600-76110400	Weak transcription	Brain Germinal Matrix	brain
38	chr16:76110800-76111000	Enhancers	HMEC	breast
39	chr16:76111000-76115000	Weak transcription	HMEC	breast
40	chr16:76112200-76112600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr16:76112200-76112600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr16:76114400-76114600	Enhancers	Brain Anterior Caudate	brain
43	chr16:76114400-76116800	Enhancers	Brain Hippocampus Middle	brain
44	chr16:76114600-76115800	Weak transcription	Brain Anterior Caudate	brain
45	chr16:76115000-76115600	Enhancers	HMEC	breast
46	chr16:76115000-76116600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:76115600-76115800	Enhancers	Brain Substantia Nigra	brain
48	chr16:76115600-76116200	Flanking Active TSS	HMEC	breast
49	chr16:76115800-76116000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr16:76115800-76116200	Flanking Active TSS	Brain Anterior Caudate	brain

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