Variant report

Variant	esv2512355
Chromosome Location	chr8:58127409-58129460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr8:58127590-58127948	K562	blood:	n/a	n/a
2	BRCA1	chr8:58127438-58127751	HepG2	liver:	n/a	n/a
3	BRCA1	chr8:58127563-58127875	GM12878	blood:	n/a	n/a
4	CHD2	chr8:58127562-58127861	HepG2	liver:	n/a	n/a
5	CTCF	chr8:58127480-58127630	GM12870	blood:	n/a	n/a
6	CTCF	chr8:58127640-58127790	NHLF	lung:	n/a	n/a
7	CTCF	chr8:58127680-58127830	K562	blood:	n/a	n/a
8	CTCF	chr8:58127640-58127790	GM12872	blood:	n/a	n/a
9	CTCF	chr8:58127640-58127790	GM12866	blood:	n/a	n/a
10	CTCF	chr8:58127580-58127730	AG09309	skin:	n/a	n/a
11	CTCF	chr8:58127640-58127790	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr8:58127560-58127710	GM12868	blood:	n/a	n/a
13	CTCF	chr8:58127680-58127830	GM12867	blood:	n/a	n/a
14	CTCF	chr8:58127700-58127850	GM12869	blood:	n/a	n/a
15	CTCF	chr8:58127660-58127810	HPF	lung:	n/a	n/a
16	CTCF	chr8:58127540-58127690	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr8:58127680-58127830	AG10803	skin:	n/a	n/a
18	EP300	chr8:58127571-58127600	GM12878	blood:	n/a	n/a
19	FOXP2	chr8:58127493-58127933	SK-N-MC	brain:	n/a	n/a
20	GTF2F1	chr8:58127562-58127921	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAZ	chr8:58127549-58127749	HepG2	liver:	n/a	n/a
22	MXI1	chr8:58127399-58127591	Hela-S3	cervix:	n/a	n/a
23	MYC	chr8:58127535-58127747	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr8:58127499-58128272	K562	blood:	n/a	n/a
25	POLR2A	chr8:58127576-58128153	HepG2	liver:	n/a	n/a
26	RCOR1	chr8:58127432-58127773	HepG2	liver:	n/a	n/a
27	RCOR1	chr8:58127570-58127860	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr8:58127501-58127860	HepG2	liver:	n/a	n/a
29	SMC3	chr8:58127576-58127764	GM12878	blood:	n/a	n/a
30	ZNF143	chr8:58127566-58127750	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58128724-58128774	AG09319	gingival:	n/a
2	chr8:58128466-58128516	AG09309	skin:	n/a
3	chr8:58128466-58128516	HepG2	liver:	n/a
4	chr8:58128724-58128774	HEK293	kidney:	embryo
5	chr8:58128466-58128516	HCPEpiC	choroid plexus:	n/a
6	chr8:58128724-58128774	Caco-2	colon:	n/a
7	chr8:58128466-58128516	HUVEC	blood vessel:	n/a
8	chr8:58128466-58128516	SK-N-SH	brain:	n/a
9	chr8:58128466-58128516	U87	brain:	n/a
10	chr8:58128724-58128774	AG10803	skin:	n/a
11	chr8:58128724-58128774	HAEpiC	amniotic membrane:	n/a
12	chr8:58128724-58128774	GM12878	blood:	n/a
13	chr8:58128724-58128774	AoSMC	blood vessel:	n/a
14	chr8:58128724-58128774	HCPEpiC	choroid plexus:	n/a
15	chr8:58128466-58128516	ProgFib	skin:	n/a
16	chr8:58128466-58128516	HCT-116	colon:	n/a
17	chr8:58128724-58128774	SK-N-SH_RA	brain:	n/a
18	chr8:58128466-58128516	IMR90	lung:	fetal
19	chr8:58128724-58128774	ECC-1	luminal epithelium:	n/a
20	chr8:58128466-58128516	AG10803	skin:	n/a
21	chr8:58128466-58128516	ECC-1	luminal epithelium:	n/a
22	chr8:58128466-58128516	MCF-7	breast:	n/a
23	chr8:58128466-58128516	HEEpiC	esophagus:	n/a
24	chr8:58128466-58128516	HCM	heart:	n/a
25	chr8:58128724-58128774	MCF10A-Er-Src	breast:	n/a
26	chr8:58128724-58128774	NHBE	bronchial:	n/a
27	chr8:58128466-58128516	GM12892	blood:	n/a
28	chr8:58128724-58128774	SKMC	muscle:	n/a
29	chr8:58128466-58128516	AG04449	skin:	fetal
30	chr8:58128724-58128774	U87	brain:	n/a
31	chr8:58128466-58128516	AG04450	lung:	fetal
32	chr8:58128724-58128774	HCM	heart:	n/a
33	chr8:58128466-58128516	Hela-S3	cervix:	n/a
34	chr8:58128466-58128516	RPTEC	kidney:	n/a
35	chr8:58128466-58128516	GM12891	blood:	n/a
36	chr8:58128466-58128516	HNPCEpiC	eye:	n/a
37	chr8:58128724-58128774	SK-N-SH	brain:	n/a
38	chr8:58128724-58128774	HRPEpiC	eye:	n/a
39	chr8:58128466-58128516	PANC-1	pancreas:	n/a
40	chr8:58128466-58128516	PFSK-1	brain:	n/a
41	chr8:58128724-58128774	ProgFib	skin:	n/a
42	chr8:58128724-58128774	PANC-1	pancreas:	n/a
43	chr8:58128724-58128774	A549	lung:	n/a
44	chr8:58128466-58128516	Caco-2	colon:	n/a
45	chr8:58128466-58128516	LNCaP	prostate:	n/a
46	chr8:58128724-58128774	HPAEpiC	pulmonary alveolar:	n/a
47	chr8:58128724-58128774	AG09309	skin:	n/a
48	chr8:58128466-58128516	SK-N-MC	brain:	n/a
49	chr8:58128724-58128774	LNCaP	prostate:	n/a
50	chr8:58128466-58128516	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:58127588..58129747-chr8:58135062..58137669,2	K562	blood:
2	chr8:58117787..58118343-chr8:58127587..58128273,3	K562	blood:
3	chr8:58116819..58119579-chr8:58126200..58127971,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253301	TF binding region
ENSG00000253301	CpG island

Extended variants
information (count: 234 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62513471	chr8:58127412-58127413	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62513472	chr8:58127419-58127420	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs540916177	chr8:58127422-58127423	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs386725786	chr8:58127424-58127425	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76136013	chr8:58127425-58127426	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74648874	chr8:58127426-58127427	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187120250	chr8:58127427-58127428	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs62513473	chr8:58127431-58127432	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7011951	chr8:58127460-58127461	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563361336	chr8:58127466-58127467	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs386725787	chr8:58127474-58127475	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77307000	chr8:58127476-58127477	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs531795077	chr8:58127481-58127482	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs75120921	chr8:58127483-58127484	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs386725788	chr8:58127487-58127488	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77532996	chr8:58127489-58127490	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs79985578	chr8:58127490-58127491	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs76973953	chr8:58127493-58127494	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548711380	chr8:58127498-58127499	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs76709683	chr8:58127511-58127512	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs80285426	chr8:58127512-58127513	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79072683	chr8:58127514-58127515	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200037997	chr8:58127517-58127518	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs115663558	chr8:58127526-58127527	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7011983	chr8:58127527-58127528	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs80078030	chr8:58127528-58127529	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs72650828	chr8:58127532-58127533	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73605834	chr8:58127555-58127556	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs550320805	chr8:58127559-58127560	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs75347756	chr8:58127566-58127567	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs569918313	chr8:58127602-58127603	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73605836	chr8:58127603-58127604	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535136461	chr8:58127614-58127615	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs75112919	chr8:58127615-58127616	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs386725789	chr8:58127618-58127619	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs79764480	chr8:58127620-58127621	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555082002	chr8:58127625-58127626	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs140680521	chr8:58127628-58127629	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs76862305	chr8:58127629-58127630	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75872814	chr8:58127638-58127639	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79250952	chr8:58127639-58127640	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs73682810	chr8:58127646-58127647	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs73605837	chr8:58127652-58127653	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs577832530	chr8:58127658-58127659	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs112834867	chr8:58127659-58127660	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs563459486	chr8:58127660-58127661	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573925880	chr8:58127672-58127673	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs542342221	chr8:58127676-58127677	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562193226	chr8:58127683-58127684	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113452497	chr8:58127684-58127685	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Multiple myeloma	16461302	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58126800-58130000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:58127000-58128000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:58127200-58128000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:58127200-58128000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:58127200-58128000	ZNF genes & repeats	Placenta	Placenta
6	chr8:58127200-58128400	ZNF genes & repeats	Spleen	Spleen
7	chr8:58127200-58130200	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr8:58127400-58127800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:58127400-58127800	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr8:58127400-58127800	ZNF genes & repeats	Gastric	stomach
11	chr8:58127400-58127800	ZNF genes & repeats	Ovary	ovary
12	chr8:58127400-58127800	ZNF genes & repeats	NHLF	lung
13	chr8:58127400-58128000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr8:58127400-58128000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:58127400-58128000	ZNF genes & repeats	Esophagus	oesophagus
16	chr8:58127400-58128000	ZNF genes & repeats	Fetal Heart	heart
17	chr8:58127400-58128000	ZNF genes & repeats	Fetal Kidney	kidney
18	chr8:58127400-58128000	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr8:58127400-58128000	ZNF genes & repeats	Lung	lung
20	chr8:58127400-58128000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
21	chr8:58127400-58128200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr8:58127400-58128400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
23	chr8:58127600-58127800	ZNF genes & repeats	Aorta	Aorta
24	chr8:58127600-58127800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
25	chr8:58127600-58127800	ZNF genes & repeats	Pancreas	Pancrea
26	chr8:58127600-58128000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:58127600-58128000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
28	chr8:58128000-58129800	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:58128000-58137400	Weak transcription	Fetal Kidney	kidney
30	chr8:58128000-58137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:58128400-58129200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:58128600-58128800	Weak transcription	Spleen	Spleen
33	chr8:58129200-58129600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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