Variant report

Variant	nsv8335
Chromosome Location	chr8:47518615-47568952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:171)
CpG islands
(count:305)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:171 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:47529231-47529761	K562	blood:	n/a	n/a
2	ATF1	chr8:47548283-47548344	K562	blood:	n/a	n/a
3	ATF1	chr8:47551373-47551428	K562	blood:	n/a	n/a
4	ATF3	chr8:47529101-47529363	K562	blood:	n/a	n/a
5	BACH1	chr8:47536608-47536724	K562	blood:	n/a	n/a
6	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
7	CBX3	chr8:47529072-47529420	K562	blood:	n/a	n/a
8	CCNT2	chr8:47528797-47529481	K562	blood:	n/a	n/a
9	CEBPB	chr8:47547945-47548304	A549	lung:	n/a	n/a
10	CEBPB	chr8:47560585-47560829	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:47546527-47547003	IMR90	lung:	n/a	chr8:47546682-47546693
12	CEBPB	chr8:47540841-47541021	HepG2	liver:	n/a	chr8:47540937-47540948
13	CEBPB	chr8:47552473-47553612	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:47557878-47558315	MCF-7	breast:	n/a	chr8:47558092-47558103
15	CEBPB	chr8:47562910-47563178	MCF-7	breast:	n/a	n/a
16	CEBPB	chr8:47561061-47561097	HepG2	liver:	n/a	n/a
17	CEBPB	chr8:47554849-47555188	MCF-7	breast:	n/a	n/a
18	CEBPB	chr8:47534167-47534483	HepG2	liver:	n/a	n/a
19	CEBPB	chr8:47562301-47562634	A549	lung:	n/a	chr8:47562536-47562547
20	CEBPB	chr8:47562442-47562621	K562	blood:	n/a	chr8:47562536-47562547
21	CEBPB	chr8:47549388-47550184	HepG2	liver:	n/a	n/a
22	CEBPB	chr8:47557988-47558287	MCF-7	breast:	n/a	chr8:47558092-47558103
23	CEBPB	chr8:47557998-47558160	K562	blood:	n/a	chr8:47558092-47558103
24	CEBPB	chr8:47534171-47534437	A549	lung:	n/a	n/a
25	CEBPB	chr8:47530129-47530132	K562	blood:	n/a	n/a
26	CEBPB	chr8:47548607-47548874	A549	lung:	n/a	chr8:47548763-47548774
27	CEBPB	chr8:47554606-47555182	A549	lung:	n/a	n/a
28	CEBPB	chr8:47554881-47555207	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr8:47529077-47529452	K562	blood:	n/a	n/a
30	CEBPB	chr8:47546537-47546824	A549	lung:	n/a	chr8:47546682-47546693
31	CEBPB	chr8:47554880-47555156	HepG2	liver:	n/a	n/a
32	CEBPB	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
33	CEBPB	chr8:47557908-47558267	HepG2	liver:	n/a	chr8:47558092-47558103
34	CEBPB	chr8:47548637-47548787	HepG2	liver:	n/a	chr8:47548763-47548774
35	CEBPB	chr8:47546529-47547110	HepG2	liver:	n/a	chr8:47546682-47546693
36	CEBPB	chr8:47549385-47550207	A549	lung:	n/a	n/a
37	CEBPB	chr8:47554891-47555151	K562	blood:	n/a	n/a
38	CEBPB	chr8:47557938-47558285	IMR90	lung:	n/a	chr8:47558092-47558103
39	CEBPB	chr8:47554887-47555177	K562	blood:	n/a	n/a
40	CEBPB	chr8:47534198-47534462	K562	blood:	n/a	n/a
41	CEBPB	chr8:47565561-47565644	A549	lung:	n/a	chr8:47565589-47565600
42	CEBPB	chr8:47525869-47526123	K562	blood:	n/a	n/a
43	CEBPB	chr8:47549465-47550234	IMR90	lung:	n/a	n/a
44	CEBPB	chr8:47562313-47562722	HepG2	liver:	n/a	chr8:47562536-47562547
45	CEBPB	chr8:47549830-47550230	MCF-7	breast:	n/a	n/a
46	CEBPB	chr8:47557928-47558275	A549	lung:	n/a	chr8:47558092-47558103
47	CEBPB	chr8:47547969-47548257	HepG2	liver:	n/a	n/a
48	CEBPB	chr8:47529169-47529350	K562	blood:	n/a	n/a
49	CEBPB	chr8:47565434-47565709	K562	blood:	n/a	chr8:47565589-47565600
50	CEBPB	chr8:47557913-47558274	K562	blood:	n/a	chr8:47558092-47558103

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47529545-47529595	SK-N-MC	brain:	n/a
2	chr8:47529015-47529065	AG10803	skin:	n/a
3	chr8:47529280-47529330	ovcar-3	ovarian:	n/a
4	chr8:47529015-47529065	PrEC	prostate:	n/a
5	chr8:47529280-47529330	CMK	blood:	n/a
6	chr8:47529015-47529065	PANC-1	pancreas:	n/a
7	chr8:47527657-47527707	H1-hESC	embryonic stem cell:	embryo
8	chr8:47529280-47529330	PANC-1	pancreas:	n/a
9	chr8:47529280-47529330	ProgFib	skin:	n/a
10	chr8:47529280-47529330	HRE	kidney:	n/a
11	chr8:47529015-47529065	A549	lung:	n/a
12	chr8:47527657-47527707	HL-60	blood:	n/a
13	chr8:47527657-47527707	SAEC	small airway:	n/a
14	chr8:47527657-47527707	HEEpiC	esophagus:	n/a
15	chr8:47526309-47526359	BE2_C	brain:	n/a
16	chr8:47529280-47529330	AoSMC	blood vessel:	n/a
17	chr8:47529545-47529595	SAEC	small airway:	n/a
18	chr8:47529280-47529330	PFSK-1	brain:	n/a
19	chr8:47526309-47526359	HCF	heart:	n/a
20	chr8:47529280-47529330	H1-hESC	embryonic stem cell:	embryo
21	chr8:47526309-47526359	HMEC	breast:	n/a
22	chr8:47529015-47529065	HCF	heart:	n/a
23	chr8:47526309-47526359	SK-N-SH	brain:	n/a
24	chr8:47529015-47529065	CMK	blood:	n/a
25	chr8:47529015-47529065	NB4	blood:	n/a
26	chr8:47529280-47529330	GM12891	blood:	n/a
27	chr8:47527657-47527707	NH-A	brain:	n/a
28	chr8:47529545-47529595	HEK293	kidney:	embryo
29	chr8:47529280-47529330	NHDF-neo	bronchial:	n/a
30	chr8:47527657-47527707	HUVEC	blood vessel:	n/a
31	chr8:47529280-47529330	GM12878	blood:	n/a
32	chr8:47527657-47527707	NB4	blood:	n/a
33	chr8:47526309-47526359	Hepatocyte	liver:	n/a
34	chr8:47529015-47529065	SKMC	muscle:	n/a
35	chr8:47529545-47529595	HRCEpiC	kidney:	n/a
36	chr8:47529015-47529065	MCF10A-Er-Src	breast:	n/a
37	chr8:47527657-47527707	AG10803	skin:	n/a
38	chr8:47529015-47529065	BJ	skin:	n/a
39	chr8:47529545-47529595	HCT-116	colon:	n/a
40	chr8:47529015-47529065	GM12892	blood:	n/a
41	chr8:47529280-47529330	GM06990	blood:	n/a
42	chr8:47529280-47529330	Hela-S3	cervix:	n/a
43	chr8:47529015-47529065	NH-A	brain:	n/a
44	chr8:47529280-47529330	HUVEC	blood vessel:	n/a
45	chr8:47529280-47529330	AG10803	skin:	n/a
46	chr8:47529015-47529065	AG09319	gingival:	n/a
47	chr8:47527657-47527707	NHBE	bronchial:	n/a
48	chr8:47529015-47529065	HCT-116	colon:	n/a
49	chr8:47529545-47529595	HRE	kidney:	n/a
50	chr8:47527657-47527707	T-47D	breast:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
2	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:
3	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:
4	chr8:47517410..47521817-chr8:47524226..47528650,6	K562	blood:
5	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:
6	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
7	chr8:47519082..47521588-chr8:47524616..47530066,4	K562	blood:
8	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
9	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:

No data

Variant related genes	Relation type
ASNSP1	TF binding region
ASNSP1	CpG island
ENSG00000070669	chromatin interactions
ENSG00000248498	chromatin interactions

Extended variants
information (count: 1480 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1480 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532193225	chr8:47518623-47518624	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4873002	chr8:47518643-47518644	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535671018	chr8:47518663-47518664	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6999856	chr8:47518685-47518686	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534404962	chr8:47518690-47518691	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554591393	chr8:47518702-47518703	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567959836	chr8:47518715-47518716	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536999512	chr8:47518729-47518730	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556904241	chr8:47518740-47518741	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576776189	chr8:47518761-47518762	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112234626	chr8:47518764-47518765	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1969449	chr8:47518772-47518773	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184055120	chr8:47518776-47518777	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199858406	chr8:47518825-47518826	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117017254	chr8:47518849-47518850	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188104028	chr8:47518852-47518853	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140622828	chr8:47518868-47518869	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543380819	chr8:47518885-47518886	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563267263	chr8:47518917-47518918	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146667024	chr8:47518929-47518930	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555186034	chr8:47518946-47518947	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140260269	chr8:47519003-47519004	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534819790	chr8:47519046-47519047	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145338135	chr8:47519053-47519054	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181018466	chr8:47519069-47519070	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78720358	chr8:47519093-47519094	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201120186	chr8:47519094-47519095	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74919374	chr8:47519096-47519097	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs137957968	chr8:47519120-47519121	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140989903	chr8:47519121-47519122	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576729069	chr8:47519140-47519141	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74684370	chr8:47519209-47519210	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368680447	chr8:47519217-47519218	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539428479	chr8:47519236-47519237	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187145873	chr8:47519261-47519262	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114597265	chr8:47519360-47519361	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570390433	chr8:47519371-47519372	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539321229	chr8:47519400-47519401	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559145364	chr8:47519439-47519440	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577983349	chr8:47519441-47519442	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192113020	chr8:47519445-47519446	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538482580	chr8:47519446-47519447	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554783430	chr8:47519486-47519487	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182132671	chr8:47519491-47519492	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376333891	chr8:47519531-47519532	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373672652	chr8:47519582-47519583	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563329752	chr8:47519592-47519593	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111627535	chr8:47519638-47519639	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12548455	chr8:47519654-47519655	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559553021	chr8:47519660-47519661	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47518600-47520200	Strong transcription	K562	blood
2	chr8:47520200-47525800	Weak transcription	K562	blood
3	chr8:47525800-47526000	Genic enhancers	K562	blood
4	chr8:47526000-47526200	Enhancers	K562	blood
5	chr8:47526200-47527000	Weak transcription	K562	blood
6	chr8:47527000-47529400	Active TSS	K562	blood
7	chr8:47528200-47529200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:47528200-47529200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:47528600-47528800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr8:47528600-47529400	Active TSS	Pancreas	Pancrea
11	chr8:47528800-47529200	ZNF genes & repeats	Placenta	Placenta
12	chr8:47529000-47529200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:47529200-47529600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:47529400-47529800	Flanking Active TSS	K562	blood
15	chr8:47529400-47531400	Weak transcription	Pancreas	Pancrea
16	chr8:47529800-47531000	Enhancers	K562	blood
17	chr8:47531600-47535200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:47531800-47532200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr8:47534800-47535200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:47539400-47539800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:47547400-47549400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:47547400-47549600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:47548000-47549200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:47549400-47554800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:47549600-47555000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:47554800-47555600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:47555000-47556600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:47555600-47560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:47556600-47560600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:47560600-47564400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:47560600-47564400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:47567200-47567600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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