Variant report

Variant	esv3481033
Chromosome Location	chr8:47523487-47530285
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	chr8:47529068-47529484	K562	blood:	n/a	n/a
7	CEBPB	chr8:47530129-47530132	K562	blood:	n/a	n/a
8	CEBPB	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
9	CEBPB	chr8:47529169-47529350	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	CHD2	chr8:47525880-47525892	HepG2	liver:	n/a	n/a
13	CHD2	chr8:47529015-47529214	K562	blood:	n/a	n/a
14	CHD2	chr8:47528496-47528521	GM12878	blood:	n/a	n/a
15	CTCF	chr8:47529678-47529749	ProgFib	skin:	n/a	n/a
16	CTCF	chr8:47528080-47528247	K562	blood:	n/a	n/a
17	CUX1	chr8:47527721-47527894	K562	blood:	n/a	n/a
18	CUX1	chr8:47528221-47528383	K562	blood:	n/a	n/a
19	E2F4	chr8:47528390-47528622	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F6	chr8:47528632-47529472	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
21	E2F6	chr8:47528562-47529568	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
22	E2F6	chr8:47528996-47529421	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
23	EP300	chr8:47528058-47529554	K562	blood:	n/a	chr8:47529340-47529356 chr8:47529228-47529237
24	EP300	chr8:47525716-47525975	K562	blood:	n/a	n/a
25	EP300	chr8:47530193-47530822	K562	blood:	n/a	chr8:47530517-47530524
26	GABPA	chr8:47526454-47526568	GM12878	blood:	n/a	n/a
27	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
28	GTF2F1	chr8:47529099-47529261	K562	blood:	n/a	n/a
29	HCFC1	chr8:47525731-47525743	K562	blood:	n/a	n/a
30	HCFC1	chr8:47528853-47529515	K562	blood:	n/a	n/a
31	HEY1	chr8:47529042-47529416	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
32	HEY1	chr8:47528573-47529560	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
33	HMGN3	chr8:47528620-47529498	K562	blood:	n/a	n/a
34	IRF1	chr8:47528936-47529432	K562	blood:	n/a	chr8:47529349-47529363 chr8:47529344-47529358 chr8:47529321-47529335 chr8:47529008-47529022 chr8:47529284-47529291
35	JUN	chr8:47528562-47529766	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
36	JUND	chr8:47528403-47529651	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
37	MAFK	chr8:47529135-47529246	K562	blood:	n/a	n/a
38	MAX	chr8:47528706-47528848	K562	blood:	n/a	n/a
39	MAX	chr8:47528509-47529586	K562	blood:	n/a	chr8:47529011-47529021
40	MAX	chr8:47528578-47529775	K562	blood:	n/a	chr8:47529011-47529021
41	MAX	chr8:47528981-47529410	MCF-7	breast:	n/a	chr8:47529011-47529021
42	MAX	chr8:47529013-47529420	K562	blood:	n/a	n/a
43	MAX	chr8:47528717-47529511	MCF-7	breast:	n/a	chr8:47529011-47529021
44	MAZ	chr8:47527663-47527737	K562	blood:	n/a	n/a
45	MAZ	chr8:47528573-47529583	K562	blood:	n/a	chr8:47529011-47529021
46	MXI1	chr8:47529109-47529274	K562	blood:	n/a	n/a
47	MYC	chr8:47529012-47529463	K562	blood:	n/a	n/a
48	MYC	chr8:47528536-47529525	K562	blood:	n/a	chr8:47529011-47529021
49	MYC	chr8:47528940-47529434	MCF-7	breast:	n/a	chr8:47529011-47529021
50	MYC	chr8:47528521-47529480	K562	blood:	n/a	chr8:47529011-47529021

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47529015-47529065	HEK293	kidney:	embryo
2	chr8:47527657-47527707	GM12892	blood:	n/a
3	chr8:47529545-47529595	BE2_C	brain:	n/a
4	chr8:47526309-47526359	GM19239	blood:	n/a
5	chr8:47529545-47529595	SAEC	small airway:	n/a
6	chr8:47529280-47529330	AG09309	skin:	n/a
7	chr8:47529280-47529330	AoSMC	blood vessel:	n/a
8	chr8:47527657-47527707	HRPEpiC	eye:	n/a
9	chr8:47529280-47529330	ovcar-3	ovarian:	n/a
10	chr8:47529545-47529595	HCM	heart:	n/a
11	chr8:47529545-47529595	GM06990	blood:	n/a
12	chr8:47529545-47529595	CMK	blood:	n/a
13	chr8:47529280-47529330	HRCEpiC	kidney:	n/a
14	chr8:47529015-47529065	HEEpiC	esophagus:	n/a
15	chr8:47529015-47529065	Jurkat	blood:	n/a
16	chr8:47527657-47527707	AG10803	skin:	n/a
17	chr8:47529280-47529330	MCF10A-Er-Src	breast:	n/a
18	chr8:47529545-47529595	HCF	heart:	n/a
19	chr8:47527657-47527707	HepG2	liver:	n/a
20	chr8:47529015-47529065	AG10803	skin:	n/a
21	chr8:47529280-47529330	RPTEC	kidney:	n/a
22	chr8:47526309-47526359	AG09319	gingival:	n/a
23	chr8:47527657-47527707	HEEpiC	esophagus:	n/a
24	chr8:47527657-47527707	SAEC	small airway:	n/a
25	chr8:47526309-47526359	HEEpiC	esophagus:	n/a
26	chr8:47529545-47529595	LNCaP	prostate:	n/a
27	chr8:47527657-47527707	HUVEC	blood vessel:	n/a
28	chr8:47527657-47527707	AG04449	skin:	fetal
29	chr8:47526309-47526359	NHDF-neo	bronchial:	n/a
30	chr8:47529280-47529330	HCT-116	colon:	n/a
31	chr8:47529015-47529065	MCF-7	breast:	n/a
32	chr8:47527657-47527707	SK-N-SH	brain:	n/a
33	chr8:47527657-47527707	Jurkat	blood:	n/a
34	chr8:47527657-47527707	HMEC	breast:	n/a
35	chr8:47529015-47529065	HCPEpiC	choroid plexus:	n/a
36	chr8:47529280-47529330	NH-A	brain:	n/a
37	chr8:47529545-47529595	HepG2	liver:	n/a
38	chr8:47529015-47529065	ECC-1	luminal epithelium:	n/a
39	chr8:47529015-47529065	IMR90	lung:	fetal
40	chr8:47529015-47529065	CMK	blood:	n/a
41	chr8:47529545-47529595	AG04450	lung:	fetal
42	chr8:47529280-47529330	GM12878	blood:	n/a
43	chr8:47527657-47527707	HRCEpiC	kidney:	n/a
44	chr8:47529015-47529065	AG04449	skin:	fetal
45	chr8:47529545-47529595	HEK293	kidney:	embryo
46	chr8:47529280-47529330	BE2_C	brain:	n/a
47	chr8:47529015-47529065	PrEC	prostate:	n/a
48	chr8:47529545-47529595	GM12878	blood:	n/a
49	chr8:47526309-47526359	AG09309	skin:	n/a
50	chr8:47529015-47529065	T-47D	breast:	n/a

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

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

Extended variants
information (count: 280 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200910463	chr8:47523494-47523495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201771503	chr8:47523559-47523560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527629152	chr8:47523649-47523650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547378081	chr8:47523677-47523678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560808996	chr8:47523681-47523682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139104198	chr8:47523703-47523704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141473015	chr8:47523709-47523710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529292967	chr8:47523751-47523752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55992700	chr8:47523754-47523755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs59776951	chr8:47523755-47523756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534574316	chr8:47523768-47523769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554524207	chr8:47523800-47523801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185670254	chr8:47523802-47523803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149336899	chr8:47523818-47523819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543110971	chr8:47523848-47523849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556781425	chr8:47523850-47523851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149623769	chr8:47523867-47523868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78672412	chr8:47523886-47523887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369211922	chr8:47523897-47523898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113353153	chr8:47523900-47523901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376701895	chr8:47523914-47523915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199513649	chr8:47524013-47524014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4593554	chr8:47524087-47524088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536612026	chr8:47524119-47524120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199756794	chr8:47524140-47524141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560840129	chr8:47524146-47524147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541378576	chr8:47524174-47524175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560867856	chr8:47524194-47524195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183019768	chr8:47524196-47524197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140194407	chr8:47524202-47524203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143971649	chr8:47524224-47524225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532289341	chr8:47524260-47524261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146426557	chr8:47524315-47524316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187761447	chr8:47524362-47524363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534344019	chr8:47524387-47524388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548187436	chr8:47524422-47524423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567995656	chr8:47524433-47524434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536938207	chr8:47524450-47524451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190850297	chr8:47524469-47524470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183187262	chr8:47524478-47524479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369766696	chr8:47524496-47524497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374026497	chr8:47524511-47524512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539182089	chr8:47524513-47524514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558798884	chr8:47524559-47524560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187877967	chr8:47524577-47524578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541052768	chr8:47524590-47524591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148625197	chr8:47524600-47524601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142112065	chr8:47524601-47524602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543317621	chr8:47524609-47524610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563204484	chr8:47524622-47524623	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:15 , 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

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