Variant report

Variant	esv33020
Chromosome Location	chr8:47526711-47539570
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	ARID3A	chr8:47529231-47529761	K562	blood:	n/a	n/a
2	ATF3	chr8:47529101-47529363	K562	blood:	n/a	n/a
3	BACH1	chr8:47536608-47536724	K562	blood:	n/a	n/a
4	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
5	CBX3	chr8:47529072-47529420	K562	blood:	n/a	n/a
6	CCNT2	chr8:47528797-47529481	K562	blood:	n/a	n/a
7	CEBPB	chr8:47534198-47534462	K562	blood:	n/a	n/a
8	CEBPB	chr8:47534139-47534510	IMR90	lung:	n/a	n/a
9	CEBPB	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
10	CEBPB	chr8:47529068-47529484	K562	blood:	n/a	n/a
11	CEBPB	chr8:47529077-47529452	K562	blood:	n/a	n/a
12	CEBPB	chr8:47530129-47530132	K562	blood:	n/a	n/a
13	CEBPB	chr8:47534171-47534437	A549	lung:	n/a	n/a
14	CEBPB	chr8:47534167-47534483	HepG2	liver:	n/a	n/a
15	CEBPB	chr8:47529169-47529350	K562	blood:	n/a	n/a
16	CEBPD	chr8:47530526-47530797	K562	blood:	n/a	n/a
17	CHD2	chr8:47529015-47529214	K562	blood:	n/a	n/a
18	CHD2	chr8:47528496-47528521	GM12878	blood:	n/a	n/a
19	CTCF	chr8:47529678-47529749	ProgFib	skin:	n/a	n/a
20	CTCF	chr8:47528080-47528247	K562	blood:	n/a	n/a
21	CUX1	chr8:47533277-47533329	K562	blood:	n/a	n/a
22	CUX1	chr8:47528221-47528383	K562	blood:	n/a	n/a
23	CUX1	chr8:47527721-47527894	K562	blood:	n/a	n/a
24	E2F4	chr8:47528390-47528622	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F6	chr8:47528562-47529568	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
26	E2F6	chr8:47528996-47529421	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
27	E2F6	chr8:47528632-47529472	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
28	EP300	chr8:47530193-47530822	K562	blood:	n/a	chr8:47530517-47530524
29	EP300	chr8:47528058-47529554	K562	blood:	n/a	chr8:47529340-47529356 chr8:47529228-47529237
30	GATA1	chr8:47530098-47530990	K562	blood:	n/a	chr8:47530310-47530323 chr8:47530314-47530321 chr8:47530309-47530325 chr8:47530314-47530321 chr8:47530312-47530321 chr8:47530608-47530617 chr8:47530307-47530328 chr8:47530633-47530643 chr8:47530634-47530643 chr8:47530312-47530322 chr8:47530314-47530321
31	GATA3	chr8:47533351-47533652	SH-SY5Y	brain:	n/a	n/a
32	GTF2F1	chr8:47529099-47529261	K562	blood:	n/a	n/a
33	HCFC1	chr8:47528853-47529515	K562	blood:	n/a	n/a
34	HEY1	chr8:47529042-47529416	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
35	HEY1	chr8:47528573-47529560	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
36	HMGN3	chr8:47528620-47529498	K562	blood:	n/a	n/a
37	IRF1	chr8:47528936-47529432	K562	blood:	n/a	chr8:47529349-47529363 chr8:47529344-47529358 chr8:47529321-47529335 chr8:47529008-47529022 chr8:47529284-47529291
38	JUN	chr8:47528562-47529766	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
39	JUND	chr8:47528403-47529651	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
40	MAFK	chr8:47529135-47529246	K562	blood:	n/a	n/a
41	MAX	chr8:47528578-47529775	K562	blood:	n/a	chr8:47529011-47529021
42	MAX	chr8:47528981-47529410	MCF-7	breast:	n/a	chr8:47529011-47529021
43	MAX	chr8:47530545-47530803	K562	blood:	n/a	n/a
44	MAX	chr8:47528706-47528848	K562	blood:	n/a	n/a
45	MAX	chr8:47528509-47529586	K562	blood:	n/a	chr8:47529011-47529021
46	MAX	chr8:47528717-47529511	MCF-7	breast:	n/a	chr8:47529011-47529021
47	MAX	chr8:47529013-47529420	K562	blood:	n/a	n/a
48	MAZ	chr8:47528573-47529583	K562	blood:	n/a	chr8:47529011-47529021
49	MAZ	chr8:47527663-47527737	K562	blood:	n/a	n/a
50	MXI1	chr8:47529109-47529274	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47527657-47527707	AG10803	skin:	n/a
2	chr8:47527657-47527707	GM12891	blood:	n/a
3	chr8:47529280-47529330	MCF10A-Er-Src	breast:	n/a
4	chr8:47527657-47527707	SKMC	muscle:	n/a
5	chr8:47529545-47529595	MCF10A-Er-Src	breast:	n/a
6	chr8:47527657-47527707	H1-hESC	embryonic stem cell:	embryo
7	chr8:47529015-47529065	AG04449	skin:	fetal
8	chr8:47529545-47529595	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:47529015-47529065	HCM	heart:	n/a
10	chr8:47529015-47529065	U87	brain:	n/a
11	chr8:47529015-47529065	GM12878	blood:	n/a
12	chr8:47529015-47529065	HRE	kidney:	n/a
13	chr8:47527657-47527707	A549	lung:	n/a
14	chr8:47529015-47529065	CMK	blood:	n/a
15	chr8:47529280-47529330	NHBE	bronchial:	n/a
16	chr8:47529280-47529330	Jurkat	blood:	n/a
17	chr8:47529545-47529595	NH-A	brain:	n/a
18	chr8:47529015-47529065	ECC-1	luminal epithelium:	n/a
19	chr8:47529015-47529065	ProgFib	skin:	n/a
20	chr8:47529545-47529595	SKMC	muscle:	n/a
21	chr8:47527657-47527707	LNCaP	prostate:	n/a
22	chr8:47529545-47529595	HCM	heart:	n/a
23	chr8:47529280-47529330	HEEpiC	esophagus:	n/a
24	chr8:47529015-47529065	IMR90	lung:	fetal
25	chr8:47529545-47529595	GM12892	blood:	n/a
26	chr8:47529015-47529065	HCPEpiC	choroid plexus:	n/a
27	chr8:47529015-47529065	K562	blood:	n/a
28	chr8:47529545-47529595	HRE	kidney:	n/a
29	chr8:47529545-47529595	A549	lung:	n/a
30	chr8:47527657-47527707	SK-N-SH	brain:	n/a
31	chr8:47529280-47529330	T-47D	breast:	n/a
32	chr8:47527657-47527707	CMK	blood:	n/a
33	chr8:47529545-47529595	Jurkat	blood:	n/a
34	chr8:47527657-47527707	AG04449	skin:	fetal
35	chr8:47529015-47529065	Hepatocyte	liver:	n/a
36	chr8:47529545-47529595	HIPEpiC	eye:	n/a
37	chr8:47529545-47529595	SK-N-SH_RA	brain:	n/a
38	chr8:47529545-47529595	NHDF-neo	bronchial:	n/a
39	chr8:47527657-47527707	HCM	heart:	n/a
40	chr8:47529545-47529595	Hela-S3	cervix:	n/a
41	chr8:47529280-47529330	HNPCEpiC	eye:	n/a
42	chr8:47529015-47529065	MCF-7	breast:	n/a
43	chr8:47527657-47527707	PFSK-1	brain:	n/a
44	chr8:47529015-47529065	HNPCEpiC	eye:	n/a
45	chr8:47527657-47527707	HPAEpiC	pulmonary alveolar:	n/a
46	chr8:47527657-47527707	PANC-1	pancreas:	n/a
47	chr8:47529015-47529065	NH-A	brain:	n/a
48	chr8:47529280-47529330	GM19239	blood:	n/a
49	chr8:47529280-47529330	Hepatocyte	liver:	n/a
50	chr8:47529545-47529595	CMK	blood:	n/a

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	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
4	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
5	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
6	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:

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

Extended variants
information (count: 370 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:370 , 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	rs370879752	chr8:47526715-47526716	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575510365	chr8:47526724-47526725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs115716419	chr8:47526745-47526746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557857953	chr8:47526786-47526787	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577644330	chr8:47526972-47526973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540258011	chr8:47526974-47526975	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143701370	chr8:47526995-47526996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543040918	chr8:47526998-47526999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374267125	chr8:47526999-47527000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs71239862	chr8:47527000-47527001	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200704384	chr8:47527015-47527016	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200188227	chr8:47527016-47527017	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114174127	chr8:47527037-47527038	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs117630010	chr8:47527079-47527080	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562006346	chr8:47527084-47527085	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376599366	chr8:47527110-47527111	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566845098	chr8:47527112-47527113	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs79166752	chr8:47527185-47527186	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs398086542	chr8:47527192-47527193	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148121284	chr8:47527240-47527241	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs190699426	chr8:47527253-47527254	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564629947	chr8:47527330-47527331	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533250331	chr8:47527412-47527413	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183348695	chr8:47527415-47527416	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs188518008	chr8:47527418-47527419	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192967495	chr8:47527433-47527434	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183179285	chr8:47527450-47527451	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141932403	chr8:47527454-47527455	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs575765904	chr8:47527456-47527457	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs188160792	chr8:47527503-47527504	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs79395837	chr8:47527505-47527506	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538073276	chr8:47527510-47527511	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs10104014	chr8:47527577-47527578	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191387967	chr8:47527632-47527633	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs183643254	chr8:47527806-47527807	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553407304	chr8:47527866-47527867	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112562710	chr8:47527892-47527893	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111437199	chr8:47527899-47527900	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs542183733	chr8:47527922-47527923	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200317277	chr8:47527928-47527929	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs555660009	chr8:47527947-47527948	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs575824360	chr8:47527996-47527997	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs573447721	chr8:47528015-47528016	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544821694	chr8:47528037-47528038	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192433951	chr8:47528052-47528053	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533515513	chr8:47528098-47528099	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377160957	chr8:47528106-47528107	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs185618501	chr8:47528138-47528139	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs540732595	chr8:47528243-47528244	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374740155	chr8:47528248-47528249	Active TSS	TF binding 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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47526200-47527000	Weak transcription	K562	blood
2	chr8:47527000-47529400	Active TSS	K562	blood
3	chr8:47528200-47529200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:47528200-47529200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:47528600-47528800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
6	chr8:47528600-47529400	Active TSS	Pancreas	Pancrea
7	chr8:47528800-47529200	ZNF genes & repeats	Placenta	Placenta
8	chr8:47529000-47529200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:47529200-47529600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:47529400-47529800	Flanking Active TSS	K562	blood
11	chr8:47529400-47531400	Weak transcription	Pancreas	Pancrea
12	chr8:47529800-47531000	Enhancers	K562	blood
13	chr8:47531600-47535200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:47531800-47532200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:47534800-47535200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:47539400-47539800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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