Variant report

Variant	nsv573072
Chromosome Location	chr16:76718764-76768372
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	chr16:76756359-76756661	HepG2	liver:	n/a	chr16:76756489-76756502 chr16:76756490-76756501 chr16:76756620-76756631
2	CEBPB	chr16:76756458-76756533	K562	blood:	n/a	chr16:76756489-76756502 chr16:76756490-76756501
3	CEBPB	chr16:76737550-76737552	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr16:76734178-76734430	IMR90	lung:	n/a	n/a
5	CEBPB	chr16:76734183-76734406	K562	blood:	n/a	n/a
6	CEBPB	chr16:76734138-76734455	HepG2	liver:	n/a	n/a
7	CEBPB	chr16:76756351-76756650	IMR90	lung:	n/a	chr16:76756489-76756502 chr16:76756490-76756501 chr16:76756620-76756631
8	CTCF	chr16:76763500-76763650	Caco-2	colon:	n/a	n/a
9	CTCF	chr16:76750953-76751093	GM20000	blood:	n/a	n/a
10	CTCF	chr16:76763520-76763670	HMEC	breast:	n/a	n/a
11	CTCF	chr16:76728900-76728946	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr16:76763541-76763612	MCF-7	breast:	n/a	n/a
13	CTCF	chr16:76763460-76763610	HRE	kidney:	n/a	n/a
14	CTCF	chr16:76763580-76763730	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr16:76763480-76763630	HRE	kidney:	n/a	n/a
16	CTCF	chr16:76763480-76763630	HPF	lung:	n/a	n/a
17	CTCF	chr16:76763520-76763670	BE2_C	brain:	n/a	n/a
18	CTCF	chr16:76763500-76763650	HMF	breast:	n/a	n/a
19	CTCF	chr16:76763540-76763690	Caco-2	colon:	n/a	n/a
20	CTCF	chr16:76763480-76763630	RPTEC	kidney:	n/a	n/a
21	CTCF	chr16:76763440-76763590	A549	lung:	n/a	n/a
22	CTCF	chr16:76763560-76763710	BE2_C	brain:	n/a	n/a
23	CTCF	chr16:76763540-76763690	MCF-7	breast:	n/a	n/a
24	CTCF	chr16:76745901-76745971	LNCaP	prostate:	n/a	n/a
25	CTCF	chr16:76763580-76763730	RPTEC	kidney:	n/a	n/a
26	CTCF	chr16:76763460-76763610	HAc	cerebellar:	n/a	n/a
27	CTCF	chr16:76763520-76763670	HEEpiC	esophagus:	n/a	n/a
28	E2F4	chr16:76763270-76763666	MCF10A-Er-Src	breast:	n/a	n/a
29	EP300	chr16:76766848-76767095	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr16:76732444-76732453	GM12878	blood:	n/a	n/a
31	EP300	chr16:76758767-76758796	K562	blood:	n/a	n/a
32	EP300	chr16:76766662-76768017	SK-N-SH	brain:	n/a	chr16:76767253-76767263 chr16:76767151-76767159
33	EP300	chr16:76767222-76767487	SK-N-SH_RA	brain:	n/a	chr16:76767253-76767263
34	FOS	chr16:76734158-76734480	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr16:76734224-76734425	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr16:76763428-76763770	MCF10A-Er-Src	breast:	n/a	chr16:76763612-76763619 chr16:76763611-76763621 chr16:76763611-76763620 chr16:76763612-76763621
37	FOS	chr16:76734162-76734435	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr16:76750261-76750510	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr16:76734164-76734431	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr16:76763129-76763200	MCF10A-Er-Src	breast:	n/a	chr16:76763131-76763139 chr16:76763131-76763138
41	FOS	chr16:76763432-76763777	MCF10A-Er-Src	breast:	n/a	chr16:76763612-76763619 chr16:76763611-76763621 chr16:76763611-76763620 chr16:76763612-76763621
42	FOS	chr16:76763428-76763760	MCF10A-Er-Src	breast:	n/a	chr16:76763612-76763619 chr16:76763611-76763621 chr16:76763611-76763620 chr16:76763612-76763621
43	FOS	chr16:76750333-76750479	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr16:76763440-76763786	MCF10A-Er-Src	breast:	n/a	chr16:76763612-76763619 chr16:76763611-76763621 chr16:76763611-76763620 chr16:76763612-76763621
45	FOS	chr16:76750325-76750511	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr16:76750311-76750447	MCF10A-Er-Src	breast:	n/a	n/a
47	GATA2	chr16:76766870-76767957	SH-SY5Y	brain:	n/a	chr16:76767513-76767523 chr16:76767511-76767520
48	GATA3	chr16:76766749-76767961	SH-SY5Y	brain:	n/a	chr16:76767513-76767523 chr16:76767511-76767520
49	GATA3	chr16:76729581-76729750	SH-SY5Y	brain:	n/a	chr16:76729645-76729666
50	JUND	chr16:76763450-76763745	HepG2	liver:	n/a	chr16:76763612-76763619 chr16:76763611-76763621 chr16:76763611-76763620 chr16:76763612-76763621 chr16:76763610-76763621

No.	Distal block	Cell Line	Cell type
1	chr16:76756661..76759781-chr16:76761311..76764642,3	K562	blood:
2	chr16:76741499..76743675-chr16:76746368..76748815,2	K562	blood:
3	chr16:76756661..76759781-chr16:76761311..76764642,3	K562	blood:
4	chr16:76747877..76750802-chr16:76754682..76756382,2	K562	blood:
5	chr16:76741969..76744727-chr16:76747101..76748627,2	K562	blood:
6	chr16:76747877..76750802-chr16:76754682..76756382,2	K562	blood:
7	chr16:76741969..76744727-chr16:76747101..76748627,2	K562	blood:
8	chr16:76741499..76743675-chr16:76746368..76748815,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-2	chr16:76737141-76737172	XLOC_011792
2	lnc-RP11-58C22.1.1-2	chr16:76733678-76734033	XLOC_011792

Variant related genes	Relation type
ENSG00000259995	TF binding region
CDKN1A	miRNA target sites

Extended variants
information (count: 362 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540027507	chr16:76733690-76733691	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545023563	chr16:76733765-76733766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532249621	chr16:76733767-76733768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs183573811	chr16:76733796-76733797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs565246573	chr16:76733816-76733817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs139132443	chr16:76733841-76733842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs35236606	chr16:76733857-76733858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551003372	chr16:76733858-76733859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs556592567	chr16:76733872-76733873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs117530198	chr16:76733915-76733916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs536779046	chr16:76733956-76733957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs547195829	chr16:76734023-76734024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs115118282	chr16:76734025-76734026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549858730	chr16:76735827-76735828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114354661	chr16:76735906-76735907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535637242	chr16:76735937-76735938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560429611	chr16:76735975-76735976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115256497	chr16:76735976-76735977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534944142	chr16:76735988-76735989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190416311	chr16:76736012-76736013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577180815	chr16:76736024-76736025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545933527	chr16:76736074-76736075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563001285	chr16:76736083-76736084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576505056	chr16:76736140-76736141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542396182	chr16:76736149-76736150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561975528	chr16:76736202-76736203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192348015	chr16:76736220-76736221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370935631	chr16:76736286-76736287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35420722	chr16:76736292-76736293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576453505	chr16:76736309-76736310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143812426	chr16:76736325-76736326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532944524	chr16:76736374-76736375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138448657	chr16:76736383-76736384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569724539	chr16:76736385-76736386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529013041	chr16:76736388-76736389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529111120	chr16:76736390-76736391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549176554	chr16:76736426-76736427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549154192	chr16:76736437-76736438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142942722	chr16:76736449-76736450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534881323	chr16:76736491-76736492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558090722	chr16:76736498-76736499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58184388	chr16:76736526-76736527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539815453	chr16:76736530-76736531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556321561	chr16:76736548-76736549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576462532	chr16:76736566-76736567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80244594	chr16:76736568-76736569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146218666	chr16:76736590-76736591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572317483	chr16:76736688-76736689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541281638	chr16:76736743-76736744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564798209	chr16:76736761-76736762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76735800-76738000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:76739200-76740400	Enhancers	Fetal Intestine Small	intestine
3	chr16:76739800-76740400	Enhancers	Fetal Intestine Large	intestine
4	chr16:76755800-76756400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr16:76757800-76759000	Enhancers	Fetal Brain Male	brain
6	chr16:76759600-76759800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:76759800-76760000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:76763000-76764000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr16:76763200-76763600	Enhancers	Fetal Intestine Small	intestine
10	chr16:76763200-76764000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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