Variant report

Variant	esv3377201
Chromosome Location	chr8:47524587-47542685
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	chr8:47529077-47529452	K562	blood:	n/a	n/a
8	CEBPB	chr8:47530129-47530132	K562	blood:	n/a	n/a
9	CEBPB	chr8:47534171-47534437	A549	lung:	n/a	n/a
10	CEBPB	chr8:47529169-47529350	K562	blood:	n/a	n/a
11	CEBPB	chr8:47529068-47529484	K562	blood:	n/a	n/a
12	CEBPB	chr8:47534167-47534483	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
14	CEBPB	chr8:47540841-47541021	HepG2	liver:	n/a	chr8:47540937-47540948
15	CEBPB	chr8:47534139-47534510	IMR90	lung:	n/a	n/a
16	CEBPB	chr8:47525869-47526123	K562	blood:	n/a	n/a
17	CEBPB	chr8:47534198-47534462	K562	blood:	n/a	n/a
18	CEBPD	chr8:47530526-47530797	K562	blood:	n/a	n/a
19	CHD2	chr8:47525880-47525892	HepG2	liver:	n/a	n/a
20	CHD2	chr8:47528496-47528521	GM12878	blood:	n/a	n/a
21	CHD2	chr8:47529015-47529214	K562	blood:	n/a	n/a
22	CTCF	chr8:47529678-47529749	ProgFib	skin:	n/a	n/a
23	CTCF	chr8:47528080-47528247	K562	blood:	n/a	n/a
24	CTCF	chr8:47540979-47541090	Kidney_OC	kidney:	n/a	n/a
25	CUX1	chr8:47527721-47527894	K562	blood:	n/a	n/a
26	CUX1	chr8:47533277-47533329	K562	blood:	n/a	n/a
27	CUX1	chr8:47528221-47528383	K562	blood:	n/a	n/a
28	E2F4	chr8:47528390-47528622	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F6	chr8:47528632-47529472	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
30	E2F6	chr8:47528562-47529568	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
31	E2F6	chr8:47528996-47529421	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
32	EP300	chr8:47525716-47525975	K562	blood:	n/a	n/a
33	EP300	chr8:47530193-47530822	K562	blood:	n/a	chr8:47530517-47530524
34	EP300	chr8:47528058-47529554	K562	blood:	n/a	chr8:47529340-47529356 chr8:47529228-47529237
35	GABPA	chr8:47526454-47526568	GM12878	blood:	n/a	n/a
36	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
37	GATA3	chr8:47533351-47533652	SH-SY5Y	brain:	n/a	n/a
38	GTF2F1	chr8:47529099-47529261	K562	blood:	n/a	n/a
39	HCFC1	chr8:47525731-47525743	K562	blood:	n/a	n/a
40	HCFC1	chr8:47528853-47529515	K562	blood:	n/a	n/a
41	HEY1	chr8:47529042-47529416	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
42	HEY1	chr8:47528573-47529560	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
43	HMGN3	chr8:47528620-47529498	K562	blood:	n/a	n/a
44	IRF1	chr8:47528936-47529432	K562	blood:	n/a	chr8:47529349-47529363 chr8:47529344-47529358 chr8:47529321-47529335 chr8:47529008-47529022 chr8:47529284-47529291
45	JUN	chr8:47528562-47529766	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
46	JUND	chr8:47528403-47529651	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
47	MAFK	chr8:47529135-47529246	K562	blood:	n/a	n/a
48	MAX	chr8:47528706-47528848	K562	blood:	n/a	n/a
49	MAX	chr8:47530545-47530803	K562	blood:	n/a	n/a
50	MAX	chr8:47529013-47529420	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47527657-47527707	BJ	skin:	n/a
2	chr8:47529015-47529065	ECC-1	luminal epithelium:	n/a
3	chr8:47526309-47526359	HCM	heart:	n/a
4	chr8:47527657-47527707	HCF	heart:	n/a
5	chr8:47527657-47527707	H1-hESC	embryonic stem cell:	embryo
6	chr8:47529545-47529595	PrEC	prostate:	n/a
7	chr8:47526309-47526359	U87	brain:	n/a
8	chr8:47529015-47529065	SK-N-SH	brain:	n/a
9	chr8:47529545-47529595	AoSMC	blood vessel:	n/a
10	chr8:47529015-47529065	CMK	blood:	n/a
11	chr8:47529015-47529065	K562	blood:	n/a
12	chr8:47529545-47529595	HRE	kidney:	n/a
13	chr8:47527657-47527707	A549	lung:	n/a
14	chr8:47526309-47526359	HCT-116	colon:	n/a
15	chr8:47529545-47529595	AG09319	gingival:	n/a
16	chr8:47527657-47527707	SK-N-MC	brain:	n/a
17	chr8:47529280-47529330	Caco-2	colon:	n/a
18	chr8:47527657-47527707	RPTEC	kidney:	n/a
19	chr8:47529015-47529065	RPTEC	kidney:	n/a
20	chr8:47526309-47526359	Hepatocyte	liver:	n/a
21	chr8:47527657-47527707	AG04449	skin:	fetal
22	chr8:47529545-47529595	PFSK-1	brain:	n/a
23	chr8:47527657-47527707	AoSMC	blood vessel:	n/a
24	chr8:47527657-47527707	GM12891	blood:	n/a
25	chr8:47527657-47527707	NHDF-neo	bronchial:	n/a
26	chr8:47526309-47526359	HEK293	kidney:	embryo
27	chr8:47526309-47526359	HPAEpiC	pulmonary alveolar:	n/a
28	chr8:47527657-47527707	HUVEC	blood vessel:	n/a
29	chr8:47529545-47529595	NT2-D1	testis:	n/a
30	chr8:47527657-47527707	AG09309	skin:	n/a
31	chr8:47529015-47529065	PANC-1	pancreas:	n/a
32	chr8:47529545-47529595	MCF-7	breast:	n/a
33	chr8:47529280-47529330	A549	lung:	n/a
34	chr8:47529280-47529330	SAEC	small airway:	n/a
35	chr8:47529280-47529330	IMR90	lung:	fetal
36	chr8:47529015-47529065	HCM	heart:	n/a
37	chr8:47529015-47529065	ovcar-3	ovarian:	n/a
38	chr8:47527657-47527707	T-47D	breast:	n/a
39	chr8:47529545-47529595	SAEC	small airway:	n/a
40	chr8:47527657-47527707	HepG2	liver:	n/a
41	chr8:47529015-47529065	H1-hESC	embryonic stem cell:	embryo
42	chr8:47527657-47527707	ProgFib	skin:	n/a
43	chr8:47527657-47527707	HRE	kidney:	n/a
44	chr8:47527657-47527707	GM12878	blood:	n/a
45	chr8:47529015-47529065	ProgFib	skin:	n/a
46	chr8:47529545-47529595	K562	blood:	n/a
47	chr8:47527657-47527707	MCF10A-Er-Src	breast:	n/a
48	chr8:47529015-47529065	T-47D	breast:	n/a
49	chr8:47527657-47527707	GM19239	blood:	n/a
50	chr8:47529545-47529595	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:
2	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:
3	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
4	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
5	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
6	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:

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

Extended variants
information (count: 495 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541052768	chr8:47524590-47524591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148625197	chr8:47524600-47524601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142112065	chr8:47524601-47524602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543317621	chr8:47524609-47524610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563204484	chr8:47524622-47524623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532224527	chr8:47524653-47524654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545952988	chr8:47524666-47524667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192090906	chr8:47524684-47524685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184190896	chr8:47524698-47524699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188377580	chr8:47524706-47524707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548249575	chr8:47524722-47524723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151179363	chr8:47524750-47524751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530468717	chr8:47524764-47524765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140277958	chr8:47524789-47524790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545677199	chr8:47524795-47524796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368774916	chr8:47524824-47524825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192853729	chr8:47524837-47524838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184829538	chr8:47524838-47524839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566073500	chr8:47524853-47524854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534782413	chr8:47524859-47524860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62538921	chr8:47524862-47524863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189389635	chr8:47524863-47524864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191533949	chr8:47524891-47524892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543380852	chr8:47524910-47524911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184902050	chr8:47524912-47524913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189619271	chr8:47524925-47524926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545714716	chr8:47524938-47524939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77144252	chr8:47524946-47524947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558923368	chr8:47524955-47524956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182595393	chr8:47525006-47525007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188457946	chr8:47525011-47525012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111283218	chr8:47525070-47525071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541948140	chr8:47525159-47525160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561725287	chr8:47525160-47525161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530535560	chr8:47525183-47525184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550566309	chr8:47525269-47525270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543175851	chr8:47525318-47525319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570277615	chr8:47525374-47525375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181952054	chr8:47525396-47525397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552535425	chr8:47525415-47525416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566257664	chr8:47525422-47525423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534850490	chr8:47525436-47525437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554662133	chr8:47525445-47525446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118134204	chr8:47525470-47525471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186780259	chr8:47525490-47525491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557308753	chr8:47525491-47525492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542167578	chr8:47525494-47525495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190080541	chr8:47525503-47525504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577104309	chr8:47525523-47525524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546077308	chr8:47525548-47525549	Weak transcription	n/a	n/a	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47520200-47525800	Weak transcription	K562	blood
2	chr8:47525800-47526000	Genic enhancers	K562	blood
3	chr8:47526000-47526200	Enhancers	K562	blood
4	chr8:47526200-47527000	Weak transcription	K562	blood
5	chr8:47527000-47529400	Active TSS	K562	blood
6	chr8:47528200-47529200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:47528200-47529200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:47528600-47528800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:47528600-47529400	Active TSS	Pancreas	Pancrea
10	chr8:47528800-47529200	ZNF genes & repeats	Placenta	Placenta
11	chr8:47529000-47529200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:47529200-47529600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:47529400-47529800	Flanking Active TSS	K562	blood
14	chr8:47529400-47531400	Weak transcription	Pancreas	Pancrea
15	chr8:47529800-47531000	Enhancers	K562	blood
16	chr8:47531600-47535200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:47531800-47532200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr8:47534800-47535200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:47539400-47539800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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