Variant report

Variant	esv2421990
Chromosome Location	chr8:47525576-47536546
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	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
4	CBX3	chr8:47529072-47529420	K562	blood:	n/a	n/a
5	CCNT2	chr8:47528797-47529481	K562	blood:	n/a	n/a
6	CEBPB	chr8:47534139-47534510	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:47530129-47530132	K562	blood:	n/a	n/a
8	CEBPB	chr8:47534167-47534483	HepG2	liver:	n/a	n/a
9	CEBPB	chr8:47529068-47529484	K562	blood:	n/a	n/a
10	CEBPB	chr8:47529077-47529452	K562	blood:	n/a	n/a
11	CEBPB	chr8:47525869-47526123	K562	blood:	n/a	n/a
12	CEBPB	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
13	CEBPB	chr8:47534198-47534462	K562	blood:	n/a	n/a
14	CEBPB	chr8:47529169-47529350	K562	blood:	n/a	n/a
15	CEBPB	chr8:47534171-47534437	A549	lung:	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	chr8:47525880-47525892	HepG2	liver:	n/a	n/a
19	CHD2	chr8:47528496-47528521	GM12878	blood:	n/a	n/a
20	CTCF	chr8:47528080-47528247	K562	blood:	n/a	n/a
21	CTCF	chr8:47529678-47529749	ProgFib	skin:	n/a	n/a
22	CUX1	chr8:47528221-47528383	K562	blood:	n/a	n/a
23	CUX1	chr8:47533277-47533329	K562	blood:	n/a	n/a
24	CUX1	chr8:47527721-47527894	K562	blood:	n/a	n/a
25	E2F4	chr8:47528390-47528622	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F6	chr8:47528632-47529472	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
27	E2F6	chr8:47528562-47529568	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
28	E2F6	chr8:47528996-47529421	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
29	EP300	chr8:47530193-47530822	K562	blood:	n/a	chr8:47530517-47530524
30	EP300	chr8:47525716-47525975	K562	blood:	n/a	n/a
31	EP300	chr8:47528058-47529554	K562	blood:	n/a	chr8:47529340-47529356 chr8:47529228-47529237
32	GABPA	chr8:47526454-47526568	GM12878	blood:	n/a	n/a
33	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
34	GATA3	chr8:47533351-47533652	SH-SY5Y	brain:	n/a	n/a
35	GTF2F1	chr8:47529099-47529261	K562	blood:	n/a	n/a
36	HCFC1	chr8:47525731-47525743	K562	blood:	n/a	n/a
37	HCFC1	chr8:47528853-47529515	K562	blood:	n/a	n/a
38	HEY1	chr8:47529042-47529416	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
39	HEY1	chr8:47528573-47529560	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
40	HMGN3	chr8:47528620-47529498	K562	blood:	n/a	n/a
41	IRF1	chr8:47528936-47529432	K562	blood:	n/a	chr8:47529349-47529363 chr8:47529344-47529358 chr8:47529321-47529335 chr8:47529008-47529022 chr8:47529284-47529291
42	JUN	chr8:47528562-47529766	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
43	JUND	chr8:47528403-47529651	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
44	MAFK	chr8:47529135-47529246	K562	blood:	n/a	n/a
45	MAX	chr8:47528509-47529586	K562	blood:	n/a	chr8:47529011-47529021
46	MAX	chr8:47528706-47528848	K562	blood:	n/a	n/a
47	MAX	chr8:47530545-47530803	K562	blood:	n/a	n/a
48	MAX	chr8:47528981-47529410	MCF-7	breast:	n/a	chr8:47529011-47529021
49	MAX	chr8:47528717-47529511	MCF-7	breast:	n/a	chr8:47529011-47529021
50	MAX	chr8:47529013-47529420	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47529545-47529595	BJ	skin:	n/a
2	chr8:47527657-47527707	T-47D	breast:	n/a
3	chr8:47527657-47527707	K562	blood:	n/a
4	chr8:47526309-47526359	Caco-2	colon:	n/a
5	chr8:47529015-47529065	NH-A	brain:	n/a
6	chr8:47529280-47529330	ProgFib	skin:	n/a
7	chr8:47526309-47526359	CMK	blood:	n/a
8	chr8:47529545-47529595	T-47D	breast:	n/a
9	chr8:47526309-47526359	NH-A	brain:	n/a
10	chr8:47529280-47529330	GM19239	blood:	n/a
11	chr8:47529280-47529330	HL-60	blood:	n/a
12	chr8:47529015-47529065	HL-60	blood:	n/a
13	chr8:47529545-47529595	HL-60	blood:	n/a
14	chr8:47529545-47529595	AG09309	skin:	n/a
15	chr8:47526309-47526359	HUVEC	blood vessel:	n/a
16	chr8:47529545-47529595	SK-N-SH	brain:	n/a
17	chr8:47529280-47529330	AG09319	gingival:	n/a
18	chr8:47529015-47529065	HEK293	kidney:	embryo
19	chr8:47529545-47529595	GM19239	blood:	n/a
20	chr8:47526309-47526359	AoSMC	blood vessel:	n/a
21	chr8:47526309-47526359	HEK293	kidney:	embryo
22	chr8:47526309-47526359	GM12891	blood:	n/a
23	chr8:47526309-47526359	BJ	skin:	n/a
24	chr8:47529280-47529330	GM12892	blood:	n/a
25	chr8:47529545-47529595	HCPEpiC	choroid plexus:	n/a
26	chr8:47529015-47529065	IMR90	lung:	fetal
27	chr8:47529015-47529065	GM06990	blood:	n/a
28	chr8:47526309-47526359	NHBE	bronchial:	n/a
29	chr8:47529545-47529595	AoSMC	blood vessel:	n/a
30	chr8:47526309-47526359	HCT-116	colon:	n/a
31	chr8:47529015-47529065	CMK	blood:	n/a
32	chr8:47529545-47529595	AG04449	skin:	fetal
33	chr8:47529280-47529330	CMK	blood:	n/a
34	chr8:47529015-47529065	LNCaP	prostate:	n/a
35	chr8:47527657-47527707	Jurkat	blood:	n/a
36	chr8:47527657-47527707	MCF10A-Er-Src	breast:	n/a
37	chr8:47527657-47527707	IMR90	lung:	fetal
38	chr8:47529280-47529330	HCF	heart:	n/a
39	chr8:47529015-47529065	HepG2	liver:	n/a
40	chr8:47529015-47529065	HAEpiC	amniotic membrane:	n/a
41	chr8:47529545-47529595	Caco-2	colon:	n/a
42	chr8:47529545-47529595	HRPEpiC	eye:	n/a
43	chr8:47529280-47529330	HNPCEpiC	eye:	n/a
44	chr8:47527657-47527707	HMEC	breast:	n/a
45	chr8:47529015-47529065	GM19239	blood:	n/a
46	chr8:47529545-47529595	IMR90	lung:	fetal
47	chr8:47529015-47529065	MCF10A-Er-Src	breast:	n/a
48	chr8:47526309-47526359	HRCEpiC	kidney:	n/a
49	chr8:47529545-47529595	Jurkat	blood:	n/a
50	chr8:47526309-47526359	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:
2	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
3	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
4	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
5	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
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: 421 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561786945	chr8:47525598-47525599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575385969	chr8:47525601-47525602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543898997	chr8:47525610-47525611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564097483	chr8:47525620-47525621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528414998	chr8:47525625-47525626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532738094	chr8:47525629-47525630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552845393	chr8:47525634-47525635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559763725	chr8:47525636-47525637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4242444	chr8:47525643-47525644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548355465	chr8:47525645-47525646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557968856	chr8:47525657-47525658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74483771	chr8:47525719-47525720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76730218	chr8:47525725-47525726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114815065	chr8:47525773-47525774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551638067	chr8:47525802-47525803	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79341361	chr8:47525813-47525814	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10096410	chr8:47525814-47525815	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146288001	chr8:47525816-47525817	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375737518	chr8:47525835-47525836	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4872665	chr8:47525845-47525846	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112427162	chr8:47525853-47525854	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376947999	chr8:47525860-47525861	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543677165	chr8:47525869-47525870	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186501664	chr8:47525901-47525902	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78887902	chr8:47525912-47525913	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535674347	chr8:47525914-47525915	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74956660	chr8:47525940-47525941	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76458771	chr8:47525951-47525952	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11992981	chr8:47525986-47525987	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555583467	chr8:47526013-47526014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575449709	chr8:47526022-47526023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113153303	chr8:47526030-47526031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190956590	chr8:47526056-47526057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369117345	chr8:47526059-47526060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574042582	chr8:47526126-47526127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563976965	chr8:47526131-47526132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372687974	chr8:47526132-47526133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138720458	chr8:47526151-47526152	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200013649	chr8:47526172-47526173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs6558273	chr8:47526205-47526206	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528630067	chr8:47526211-47526212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143902051	chr8:47526215-47526216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548415319	chr8:47526233-47526234	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113325714	chr8:47526238-47526239	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs561943422	chr8:47526282-47526283	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530962941	chr8:47526309-47526310	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs551064835	chr8:47526319-47526320	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs149361716	chr8:47526395-47526396	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs539841531	chr8:47526454-47526455	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530701374	chr8:47526470-47526471	Weak transcription	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:18 , 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

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