Variant report

Variant	nsv572565
Chromosome Location	chr16:48509311-48519190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:48513909-48514304	HepG2	liver:	n/a	n/a
2	BATF	chr16:48515757-48516003	GM12878	blood:	n/a	n/a
3	CEBPB	chr16:48513883-48514303	IMR90	lung:	n/a	chr16:48514055-48514066
4	CEBPB	chr16:48513967-48514188	HepG2	liver:	n/a	chr16:48514055-48514066
5	CEBPB	chr16:48513891-48514254	K562	blood:	n/a	chr16:48514055-48514066
6	CEBPB	chr16:48513899-48514277	A549	lung:	n/a	chr16:48514055-48514066
7	CEBPB	chr16:48513881-48514334	HepG2	liver:	n/a	chr16:48514055-48514066
8	CEBPB	chr16:48513956-48514201	H1-hESC	embryonic stem cell:	n/a	chr16:48514055-48514066
9	CEBPB	chr16:48513921-48514262	HepG2	liver:	n/a	chr16:48514055-48514066
10	CEBPB	chr16:48513891-48514295	Hela-S3	cervix:	n/a	chr16:48514055-48514066
11	CEBPB	chr16:48513862-48514406	HepG2	liver:	n/a	chr16:48514055-48514066
12	CEBPD	chr16:48513958-48514270	HepG2	liver:	n/a	n/a
13	CHD2	chr16:48513979-48514158	HepG2	liver:	n/a	n/a
14	CREB1	chr16:48513837-48514329	HepG2	liver:	n/a	n/a
15	CREB1	chr16:48513831-48514398	HepG2	liver:	n/a	n/a
16	CTCF	chr16:48515780-48515930	HepG2	liver:	n/a	n/a
17	CTCF	chr16:48515780-48515930	HMF	breast:	n/a	n/a
18	CTCF	chr16:48515760-48515910	A549	lung:	n/a	n/a
19	CTCF	chr16:48515800-48515950	GM12878	blood:	n/a	n/a
20	CTCF	chr16:48515720-48515870	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr16:48515800-48515950	K562	blood:	n/a	n/a
22	CTCF	chr16:48515760-48515910	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr16:48515820-48515970	HEK293	kidney:	n/a	n/a
24	CTCF	chr16:48515800-48515950	GM12865	blood:	n/a	n/a
25	CTCF	chr16:48516060-48516210	HepG2	liver:	n/a	n/a
26	CTCF	chr16:48515860-48516010	HepG2	liver:	n/a	n/a
27	CTCF	chr16:48515840-48515990	HBMEC	blood vessel:	n/a	n/a
28	CUX1	chr16:48513972-48514045	GM12878	blood:	n/a	n/a
29	E2F4	chr16:48513911-48514043	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr16:48513809-48514349	HepG2	liver:	n/a	n/a
31	EP300	chr16:48513910-48514257	HepG2	liver:	n/a	n/a
32	EP300	chr16:48513789-48514337	HepG2	liver:	n/a	n/a
33	FOS	chr16:48513885-48514253	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr16:48513940-48514223	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr16:48513903-48514217	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr16:48513911-48514268	MCF10A-Er-Src	breast:	n/a	n/a
37	FOXA1	chr16:48513790-48514386	HepG2	liver:	n/a	n/a
38	FOXA1	chr16:48513887-48514264	HepG2	liver:	n/a	n/a
39	FOXA1	chr16:48513938-48514380	HepG2	liver:	n/a	n/a
40	FOXA1	chr16:48513768-48514357	HepG2	liver:	n/a	n/a
41	FOXA2	chr16:48513917-48514286	HepG2	liver:	n/a	n/a
42	HDAC2	chr16:48513891-48514290	HepG2	liver:	n/a	n/a
43	HNF4A	chr16:48513950-48514302	HepG2	liver:	n/a	n/a
44	HNF4A	chr16:48513965-48514203	HepG2	liver:	n/a	n/a
45	JUN	chr16:48513892-48514270	HepG2	liver:	n/a	chr16:48514056-48514069
46	JUND	chr16:48513895-48514259	HepG2	liver:	n/a	n/a
47	JUND	chr16:48518778-48518926	H1-hESC	embryonic stem cell:	n/a	n/a
48	KAP1	chr16:48513379-48514350	U2OS	brain:	n/a	n/a
49	MAFF	chr16:48517901-48518101	HepG2	liver:	n/a	n/a
50	MAFF	chr16:48513968-48514190	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48513474-48513524	HepG2	liver:	n/a
2	chr16:48513474-48513524	HCF	heart:	n/a
3	chr16:48513474-48513524	IMR90	lung:	fetal
4	chr16:48513474-48513524	T-47D	breast:	n/a
5	chr16:48513474-48513524	SK-N-SH	brain:	n/a
6	chr16:48513474-48513524	HL-60	blood:	n/a
7	chr16:48513474-48513524	MCF10A-Er-Src	breast:	n/a
8	chr16:48513474-48513524	HMEC	breast:	n/a
9	chr16:48513474-48513524	AG04450	lung:	fetal
10	chr16:48513474-48513524	HEK293	kidney:	embryo
11	chr16:48513474-48513524	PFSK-1	brain:	n/a
12	chr16:48513474-48513524	GM12891	blood:	n/a
13	chr16:48513474-48513524	MCF-7	breast:	n/a
14	chr16:48513474-48513524	NB4	blood:	n/a
15	chr16:48513474-48513524	LNCaP	prostate:	n/a
16	chr16:48513474-48513524	A549	lung:	n/a
17	chr16:48513474-48513524	RPTEC	kidney:	n/a
18	chr16:48513474-48513524	CMK	blood:	n/a
19	chr16:48513474-48513524	HEEpiC	esophagus:	n/a
20	chr16:48513474-48513524	HCM	heart:	n/a
21	chr16:48513474-48513524	HRCEpiC	kidney:	n/a
22	chr16:48513474-48513524	SK-N-SH_RA	brain:	n/a
23	chr16:48513474-48513524	GM19239	blood:	n/a
24	chr16:48513474-48513524	HIPEpiC	eye:	n/a
25	chr16:48513474-48513524	H1-hESC	embryonic stem cell:	embryo
26	chr16:48513474-48513524	AG09319	gingival:	n/a
27	chr16:48513474-48513524	NHBE	bronchial:	n/a
28	chr16:48513474-48513524	ProgFib	skin:	n/a
29	chr16:48513474-48513524	U87	brain:	n/a
30	chr16:48513474-48513524	AG10803	skin:	n/a
31	chr16:48513474-48513524	AG09309	skin:	n/a
32	chr16:48513474-48513524	PrEC	prostate:	n/a
33	chr16:48513474-48513524	Jurkat	blood:	n/a
34	chr16:48513474-48513524	NT2-D1	testis:	n/a
35	chr16:48513474-48513524	NHDF-neo	bronchial:	n/a
36	chr16:48513474-48513524	BE2_C	brain:	n/a
37	chr16:48513474-48513524	NH-A	brain:	n/a
38	chr16:48513474-48513524	ECC-1	luminal epithelium:	n/a
39	chr16:48513474-48513524	K562	blood:	n/a
40	chr16:48513474-48513524	Hepatocyte	liver:	n/a
41	chr16:48513474-48513524	AoSMC	blood vessel:	n/a
42	chr16:48513474-48513524	GM12878	blood:	n/a
43	chr16:48513474-48513524	SKMC	muscle:	n/a
44	chr16:48513474-48513524	PANC-1	pancreas:	n/a
45	chr16:48513474-48513524	HAEpiC	amniotic membrane:	n/a
46	chr16:48513474-48513524	HRE	kidney:	n/a
47	chr16:48513474-48513524	HNPCEpiC	eye:	n/a
48	chr16:48513474-48513524	BJ	skin:	n/a
49	chr16:48513474-48513524	AG04449	skin:	fetal
50	chr16:48513474-48513524	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
ENSG00000260688	TF binding region
ENSG00000260688	CpG island

Extended variants
information (count: 394 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:394 , 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	rs149824668	chr16:48509386-48509387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372223986	chr16:48509407-48509408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112611845	chr16:48509521-48509522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183329575	chr16:48509527-48509528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12932772	chr16:48509609-48509610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115302225	chr16:48509673-48509674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534699042	chr16:48509773-48509774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530644157	chr16:48509851-48509852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372637516	chr16:48509867-48509868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557909430	chr16:48509959-48509960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572396207	chr16:48509969-48509970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187230090	chr16:48509970-48509971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116782153	chr16:48509974-48509975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557505499	chr16:48510022-48510023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113449890	chr16:48510054-48510055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114861143	chr16:48510069-48510070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539831169	chr16:48510109-48510110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565536376	chr16:48510122-48510123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113410182	chr16:48510246-48510247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529651274	chr16:48510305-48510306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13330965	chr16:48510330-48510331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572218925	chr16:48510391-48510392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541018628	chr16:48510470-48510471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563960630	chr16:48510509-48510510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192909297	chr16:48510608-48510609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543374205	chr16:48510626-48510627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113118280	chr16:48510636-48510637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143669734	chr16:48510649-48510650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549017658	chr16:48510659-48510660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79309619	chr16:48510790-48510791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74598935	chr16:48510836-48510837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551733821	chr16:48510849-48510850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571575624	chr16:48510857-48510858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184850314	chr16:48510890-48510891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115091839	chr16:48510939-48510940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567815084	chr16:48510962-48510963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138313867	chr16:48510999-48511000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553645722	chr16:48511017-48511018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142323672	chr16:48511063-48511064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147011980	chr16:48511085-48511086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78290688	chr16:48511103-48511104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77777504	chr16:48511105-48511106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376542681	chr16:48511135-48511136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557707439	chr16:48511202-48511203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528779933	chr16:48511216-48511217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374389300	chr16:48511242-48511243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577580486	chr16:48511271-48511272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370241802	chr16:48511323-48511324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374943689	chr16:48511327-48511328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188118787	chr16:48511335-48511336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48508200-48512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:48512000-48513600	Enhancers	Placenta	Placenta
3	chr16:48512000-48514000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr16:48512200-48513200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:48512400-48512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:48512400-48513400	Enhancers	A549	lung
7	chr16:48512400-48513600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:48512400-48513600	Bivalent Enhancer	HepG2	liver
9	chr16:48512400-48514200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr16:48512600-48513400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:48512600-48513600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr16:48512600-48514200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:48512600-48514200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr16:48512800-48513200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:48512800-48513600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr16:48512800-48513800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:48512800-48515000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:48513000-48514200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:48513200-48513400	Enhancers	Fetal Brain Female	brain
20	chr16:48513400-48513600	Enhancers	Fetal Brain Male	brain
21	chr16:48513400-48514600	Weak transcription	Fetal Brain Female	brain
22	chr16:48513400-48515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:48513400-48515600	Weak transcription	A549	lung
24	chr16:48513600-48514600	Weak transcription	Fetal Brain Male	brain
25	chr16:48513600-48514600	Weak transcription	Placenta	Placenta
26	chr16:48513600-48516000	Enhancers	HepG2	liver
27	chr16:48513800-48514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:48513800-48514400	Enhancers	Liver	Liver
29	chr16:48514200-48514400	Enhancers	Adipose Nuclei	Adipose
30	chr16:48514200-48514800	Enhancers	Ovary	ovary
31	chr16:48514400-48515000	Weak transcription	Adipose Nuclei	Adipose
32	chr16:48514600-48514800	Enhancers	Fetal Brain Female	brain
33	chr16:48514600-48515200	Enhancers	Placenta	Placenta
34	chr16:48514600-48515800	Enhancers	Fetal Brain Male	brain
35	chr16:48514800-48515600	Weak transcription	Fetal Brain Female	brain
36	chr16:48515000-48515400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:48515000-48515800	Enhancers	Adipose Nuclei	Adipose
38	chr16:48515000-48516200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:48515400-48516200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:48515600-48515800	Enhancers	Fetal Brain Female	brain
41	chr16:48515600-48516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:48515600-48516000	Enhancers	A549	lung
43	chr16:48515800-48516800	Weak transcription	Fetal Brain Female	brain
44	chr16:48516000-48516200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:48516000-48516200	Flanking Active TSS	HepG2	liver
46	chr16:48516000-48518200	Weak transcription	A549	lung
47	chr16:48516200-48524600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:48517600-48517800	Flanking Active TSS	HSMM	muscle
49	chr16:48517800-48518000	Active TSS	HSMM	muscle
50	chr16:48518000-48518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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