Variant report

Variant	esv1818072
Chromosome Location	chr8:54968014-54991447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:54983245-54984162	GM12878	blood:	n/a	n/a
2	ATF2	chr8:54983178-54984241	GM12878	blood:	n/a	n/a
3	BATF	chr8:54983564-54983928	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:54983595-54983899	GM12878	blood:	n/a	n/a
5	BCL3	chr8:54983448-54984130	GM12878	blood:	n/a	n/a
6	BCLAF1	chr8:54983333-54984014	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:54982778-54983106	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr8:54982836-54983001	K562	blood:	n/a	n/a
9	CEBPB	chr8:54982641-54983178	A549	lung:	n/a	n/a
10	CEBPB	chr8:54982751-54983044	K562	blood:	n/a	n/a
11	CEBPB	chr8:54982749-54983134	K562	blood:	n/a	n/a
12	CEBPB	chr8:54982726-54983107	MCF-7	breast:	n/a	n/a
13	CEBPB	chr8:54973625-54973859	A549	lung:	n/a	chr8:54973696-54973707
14	CEBPB	chr8:54982758-54983128	HepG2	liver:	n/a	n/a
15	CEBPB	chr8:54982857-54983071	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr8:54982753-54983130	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr8:54982716-54983062	A549	lung:	n/a	n/a
18	CEBPB	chr8:54973608-54973846	HepG2	liver:	n/a	chr8:54973696-54973707
19	CEBPB	chr8:54982754-54983131	IMR90	lung:	n/a	n/a
20	CEBPB	chr8:54973635-54973793	K562	blood:	n/a	chr8:54973696-54973707
21	CEBPB	chr8:54982754-54983130	A549	lung:	n/a	n/a
22	CEBPB	chr8:54982726-54983084	MCF-7	breast:	n/a	n/a
23	CEBPB	chr8:54982703-54983069	ECC-1	luminal epithelium:	n/a	n/a
24	CUX1	chr8:54983439-54984003	GM12878	blood:	n/a	n/a
25	E2F4	chr8:54980586-54980825	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr8:54983525-54983940	GM12878	blood:	n/a	n/a
27	EGR1	chr8:54972292-54972749	MCF-7	breast:	n/a	chr8:54972550-54972565
28	EGR1	chr8:54972341-54972705	MCF-7	breast:	n/a	chr8:54972550-54972565
29	EP300	chr8:54983405-54984061	GM12878	blood:	n/a	n/a
30	ESR1	chr8:54988396-54988699	T-47D	breast:	n/a	n/a
31	ETS1	chr8:54983451-54983990	GM12878	blood:	n/a	n/a
32	FOS	chr8:54986527-54986663	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr8:54986526-54986726	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr8:54986537-54986728	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr8:54986523-54986646	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr8:54974101-54974457	HepG2	liver:	n/a	chr8:54974341-54974350
37	FOXA1	chr8:54981087-54981350	T-47D	breast:	n/a	n/a
38	FOXA1	chr8:54972240-54972606	T-47D	breast:	n/a	n/a
39	FOXA1	chr8:54972249-54972620	T-47D	breast:	n/a	n/a
40	FOXA1	chr8:54981095-54981296	T-47D	breast:	n/a	n/a
41	FOXM1	chr8:54983164-54984131	GM12878	blood:	n/a	n/a
42	FOXM1	chr8:54983355-54983987	GM12878	blood:	n/a	n/a
43	GATA2	chr8:54987558-54988213	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr8:54987562-54988049	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr8:54972171-54972688	T-47D	breast:	n/a	n/a
46	GATA3	chr8:54972184-54972528	T-47D	breast:	n/a	n/a
47	GATA3	chr8:54972142-54972754	MCF-7	breast:	n/a	n/a
48	GATA3	chr8:54988934-54989171	T-47D	breast:	n/a	n/a
49	GATA3	chr8:54987649-54988059	MCF-7	breast:	n/a	n/a
50	GATA3	chr8:54972096-54972711	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54946751..54948524-chr8:54980424..54982070,2	K562	blood:
2	chr8:54930533..54932312-chr8:54982689..54985099,2	K562	blood:
3	chr8:54989302..54990863-chr8:55047007..55048640,2	K562	blood:
4	chr8:54990352..54992315-chr8:55004670..55007174,2	K562	blood:
5	chr8:54990580..54993539-chr8:55009667..55012320,2	K562	blood:
6	chr8:54990580..54994755-chr8:55009285..55012320,3	K562	blood:
7	chr8:54990408..54992108-chr8:55013448..55015139,2	MCF-7	breast:

No data

Variant related genes	Relation type
TDGF1P5	TF binding region
LYPLA1	TF binding region
ENSG00000120992	chromatin interactions
ENSG00000137547	chromatin interactions

Extended variants
information (count: 858 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10101967	chr8:54968014-54968015	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192968452	chr8:54968052-54968053	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573649020	chr8:54968206-54968207	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201091285	chr8:54968207-54968208	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557389355	chr8:54968208-54968209	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572043643	chr8:54968232-54968233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184808087	chr8:54968244-54968245	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563890847	chr8:54968265-54968266	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs367919611	chr8:54968344-54968345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111688856	chr8:54968364-54968365	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548597529	chr8:54968365-54968366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568494937	chr8:54968381-54968382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs60672236	chr8:54968405-54968406	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529264116	chr8:54968422-54968423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549141102	chr8:54968423-54968424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188766136	chr8:54968491-54968492	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78500946	chr8:54968497-54968498	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552109326	chr8:54968515-54968516	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543271406	chr8:54968517-54968518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371413810	chr8:54968655-54968656	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148012039	chr8:54968659-54968660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113885214	chr8:54968687-54968688	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559985239	chr8:54968705-54968706	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142337700	chr8:54968745-54968746	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144620382	chr8:54968796-54968797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535416915	chr8:54968809-54968810	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112980302	chr8:54968886-54968887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs11992220	chr8:54968904-54968905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542606737	chr8:54968907-54968908	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369074905	chr8:54968914-54968915	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534400010	chr8:54968927-54968928	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557669839	chr8:54968970-54968971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368086766	chr8:54968975-54968976	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545523560	chr8:54968994-54968995	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543278094	chr8:54968997-54968998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557409552	chr8:54969004-54969005	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs574013126	chr8:54969072-54969073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138758982	chr8:54969093-54969094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141898666	chr8:54969151-54969152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146273068	chr8:54969197-54969198	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545709559	chr8:54969240-54969241	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs180740635	chr8:54969252-54969253	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565350906	chr8:54969254-54969255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531111571	chr8:54969275-54969276	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530828086	chr8:54969302-54969303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550940153	chr8:54969313-54969314	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550928694	chr8:54969322-54969323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs4480103	chr8:54969325-54969326	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540297453	chr8:54969343-54969344	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183830263	chr8:54969355-54969356	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
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
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
Cancer	20164920	CNVD
Oral cancer	21386901	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:54944200-54974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
5	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
6	chr8:54949800-54999400	Weak transcription	NHLF	lung
7	chr8:54954000-54973800	Weak transcription	Right Ventricle	heart
8	chr8:54955000-54968400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:54955200-54979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:54955400-54970400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:54955400-54978400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:54956400-54974200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:54956600-54977800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:54957200-54968600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:54957200-54973800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
20	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:54960000-54978600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
23	chr8:54960400-54970400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:54960600-54968200	Strong transcription	Primary B cells from cord blood	blood
25	chr8:54960600-54968400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:54960600-54970400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:54960600-54977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:54960600-54977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:54960800-54968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:54960800-54970600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:54960800-54977400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:54960800-54977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:54960800-54978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:54961200-54970000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:54961200-54970400	Strong transcription	Adipose Nuclei	Adipose
36	chr8:54962000-54970600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:54962200-54971600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
39	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
40	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
43	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
44	chr8:54963400-54969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
46	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:54964600-54978000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:54965200-54970400	Strong transcription	A549	lung
49	chr8:54965400-54972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:54965400-54972800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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