Variant report

Variant	esv1815576
Chromosome Location	chr8:58126589-58130496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:428)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 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	chr8:58127563-58127875	GM12878	blood:	n/a	n/a
3	BRCA1	chr8:58127438-58127751	HepG2	liver:	n/a	n/a
4	CHD2	chr8:58127562-58127861	HepG2	liver:	n/a	n/a
5	CTCF	chr8:58126535-58126668	K562	blood:	n/a	n/a
6	CTCF	chr8:58126544-58126631	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr8:58127640-58127790	NHLF	lung:	n/a	n/a
8	CTCF	chr8:58127540-58127690	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr8:58127580-58127730	AG09309	skin:	n/a	n/a
10	CTCF	chr8:58127560-58127710	GM12868	blood:	n/a	n/a
11	CTCF	chr8:58127700-58127850	GM12869	blood:	n/a	n/a
12	CTCF	chr8:58126534-58126613	HepG2	liver:	n/a	n/a
13	CTCF	chr8:58126396-58126724	K562	blood:	n/a	n/a
14	CTCF	chr8:58127640-58127790	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr8:58127680-58127830	K562	blood:	n/a	n/a
16	CTCF	chr8:58126261-58126832	K562	blood:	n/a	n/a
17	CTCF	chr8:58127640-58127790	GM12866	blood:	n/a	n/a
18	CTCF	chr8:58127680-58127830	AG10803	skin:	n/a	n/a
19	CTCF	chr8:58127640-58127790	GM12872	blood:	n/a	n/a
20	CTCF	chr8:58127660-58127810	HPF	lung:	n/a	n/a
21	CTCF	chr8:58127680-58127830	GM12867	blood:	n/a	n/a
22	CTCF	chr8:58127480-58127630	GM12870	blood:	n/a	n/a
23	EP300	chr8:58127571-58127600	GM12878	blood:	n/a	n/a
24	FOXP2	chr8:58127493-58127933	SK-N-MC	brain:	n/a	n/a
25	FOXP2	chr8:58124751-58126642	SK-N-MC	brain:	n/a	n/a
26	GTF2F1	chr8:58127562-58127921	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr8:58127549-58127749	HepG2	liver:	n/a	n/a
28	MXI1	chr8:58127399-58127591	Hela-S3	cervix:	n/a	n/a
29	MYC	chr8:58127535-58127747	H1-hESC	embryonic stem cell:	n/a	n/a
30	NR3C1	chr8:58130120-58130604	A549	lung:	n/a	n/a
31	PAX5	chr8:58125720-58126633	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:58127576-58128153	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:58127499-58128272	K562	blood:	n/a	n/a
34	POU2F2	chr8:58124685-58126635	GM12878	blood:	n/a	n/a
35	RCOR1	chr8:58127570-58127860	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr8:58127432-58127773	HepG2	liver:	n/a	n/a
37	REST	chr8:58125788-58126598	PANC-1	pancreas:	n/a	n/a
38	REST	chr8:58130162-58130421	PANC-1	pancreas:	n/a	n/a
39	RFX5	chr8:58127501-58127860	HepG2	liver:	n/a	n/a
40	SIX5	chr8:58126333-58126597	K562	blood:	n/a	n/a
41	SMC3	chr8:58127576-58127764	GM12878	blood:	n/a	n/a
42	ZNF143	chr8:58127566-58127750	Hela-S3	cervix:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58128466-58128516	SK-N-SH_RA	brain:	n/a
2	chr8:58128466-58128516	SK-N-SH_RA	brain:	n/a
3	chr8:58129604-58129654	AG04450	lung:	fetal
4	chr8:58130041-58130091	GM12878	blood:	n/a
5	chr8:58128724-58128774	H1-hESC	embryonic stem cell:	embryo
6	chr8:58130041-58130091	Caco-2	colon:	n/a
7	chr8:58130041-58130091	ovcar-3	ovarian:	n/a
8	chr8:58130467-58130517	GM12892	blood:	n/a
9	chr8:58130323-58130373	HCF	heart:	n/a
10	chr8:58126962-58127012	HRE	kidney:	n/a
11	chr8:58129604-58129654	Hepatocyte	liver:	n/a
12	chr8:58130041-58130091	HIPEpiC	eye:	n/a
13	chr8:58128466-58128516	Jurkat	blood:	n/a
14	chr8:58130323-58130373	HMEC	breast:	n/a
15	chr8:58128466-58128516	AG10803	skin:	n/a
16	chr8:58128724-58128774	AG09319	gingival:	n/a
17	chr8:58126962-58127012	A549	lung:	n/a
18	chr8:58130041-58130091	BE2_C	brain:	n/a
19	chr8:58128724-58128774	GM12891	blood:	n/a
20	chr8:58126962-58127012	Caco-2	colon:	n/a
21	chr8:58128724-58128774	T-47D	breast:	n/a
22	chr8:58130041-58130091	U87	brain:	n/a
23	chr8:58129604-58129654	AG04449	skin:	fetal
24	chr8:58128466-58128516	SKMC	muscle:	n/a
25	chr8:58128466-58128516	MCF-7	breast:	n/a
26	chr8:58129604-58129654	AoSMC	blood vessel:	n/a
27	chr8:58128724-58128774	GM12892	blood:	n/a
28	chr8:58128466-58128516	HRCEpiC	kidney:	n/a
29	chr8:58130041-58130091	GM06990	blood:	n/a
30	chr8:58128466-58128516	AG04449	skin:	fetal
31	chr8:58130041-58130091	PrEC	prostate:	n/a
32	chr8:58129604-58129654	HNPCEpiC	eye:	n/a
33	chr8:58130467-58130517	BJ	skin:	n/a
34	chr8:58130467-58130517	GM06990	blood:	n/a
35	chr8:58129604-58129654	HEK293	kidney:	embryo
36	chr8:58126962-58127012	PANC-1	pancreas:	n/a
37	chr8:58130467-58130517	SAEC	small airway:	n/a
38	chr8:58128466-58128516	H1-hESC	embryonic stem cell:	embryo
39	chr8:58128724-58128774	Caco-2	colon:	n/a
40	chr8:58130041-58130091	SK-N-SH	brain:	n/a
41	chr8:58130041-58130091	Hela-S3	cervix:	n/a
42	chr8:58130323-58130373	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:58128724-58128774	ovcar-3	ovarian:	n/a
44	chr8:58130467-58130517	HIPEpiC	eye:	n/a
45	chr8:58128724-58128774	HUVEC	blood vessel:	n/a
46	chr8:58130323-58130373	H1-hESC	embryonic stem cell:	embryo
47	chr8:58130041-58130091	ECC-1	luminal epithelium:	n/a
48	chr8:58130323-58130373	IMR90	lung:	fetal
49	chr8:58128466-58128516	HCM	heart:	n/a
50	chr8:58128724-58128774	HEK293	kidney:	embryo

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

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

No data

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

Extended variants
information (count: 460 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:460 , 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	rs3883880	chr8:58126589-58126590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs28469320	chr8:58126594-58126595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573765485	chr8:58126613-58126614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376282142	chr8:58126622-58126623	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542735849	chr8:58126628-58126629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs370407508	chr8:58126631-58126632	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552904358	chr8:58126635-58126636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs572912196	chr8:58126658-58126659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200863150	chr8:58126659-58126660	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111697750	chr8:58126662-58126663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183390671	chr8:58126665-58126666	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs75827380	chr8:58126667-58126668	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs80297610	chr8:58126668-58126669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565486845	chr8:58126669-58126670	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111763295	chr8:58126673-58126674	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs552165909	chr8:58126677-58126678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs386725776	chr8:58126680-58126681	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544512882	chr8:58126685-58126686	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs386725777	chr8:58126687-58126688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs386725778	chr8:58126688-58126689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371618683	chr8:58126691-58126692	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546719788	chr8:58126692-58126693	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs375931800	chr8:58126696-58126697	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149571986	chr8:58126707-58126708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201179370	chr8:58126717-58126718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs75055299	chr8:58126718-58126719	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143273088	chr8:58126721-58126722	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187926465	chr8:58126722-58126723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs6474104	chr8:58126732-58126733	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567919728	chr8:58126734-58126735	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536307620	chr8:58126741-58126742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs553092645	chr8:58126762-58126763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs576742861	chr8:58126767-58126768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191579158	chr8:58126768-58126769	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs77245624	chr8:58126770-58126771	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs77693691	chr8:58126773-58126774	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs72621431	chr8:58126783-58126784	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111843870	chr8:58126798-58126799	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
39	rs575814043	chr8:58126814-58126815	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs375594192	chr8:58126829-58126830	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561419394	chr8:58126831-58126832	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111654445	chr8:58126864-58126865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540319359	chr8:58126866-58126867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560333518	chr8:58126867-58126868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6984401	chr8:58126871-58126872	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112284721	chr8:58126876-58126877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386725779	chr8:58126879-58126880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72650827	chr8:58126884-58126885	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs386725780	chr8:58126889-58126890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111541430	chr8:58126891-58126892	ZNF genes & repeats Weak transcription	n/a	n/a	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58122800-58127400	Weak transcription	Fetal Heart	heart
2	chr8:58123000-58126800	Weak transcription	Right Ventricle	heart
3	chr8:58123000-58127400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:58123400-58127400	Weak transcription	Fetal Kidney	kidney
5	chr8:58125800-58127000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:58126800-58130000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:58127000-58128000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:58127200-58128000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:58127200-58128000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:58127200-58128000	ZNF genes & repeats	Placenta	Placenta
11	chr8:58127200-58128400	ZNF genes & repeats	Spleen	Spleen
12	chr8:58127200-58130200	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr8:58127400-58127800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:58127400-58127800	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr8:58127400-58127800	ZNF genes & repeats	Gastric	stomach
16	chr8:58127400-58127800	ZNF genes & repeats	Ovary	ovary
17	chr8:58127400-58127800	ZNF genes & repeats	NHLF	lung
18	chr8:58127400-58128000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr8:58127400-58128000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:58127400-58128000	ZNF genes & repeats	Esophagus	oesophagus
21	chr8:58127400-58128000	ZNF genes & repeats	Fetal Heart	heart
22	chr8:58127400-58128000	ZNF genes & repeats	Fetal Kidney	kidney
23	chr8:58127400-58128000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr8:58127400-58128000	ZNF genes & repeats	Lung	lung
25	chr8:58127400-58128000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr8:58127400-58128200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr8:58127400-58128400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr8:58127600-58127800	ZNF genes & repeats	Aorta	Aorta
29	chr8:58127600-58127800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
30	chr8:58127600-58127800	ZNF genes & repeats	Pancreas	Pancrea
31	chr8:58127600-58128000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:58127600-58128000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
33	chr8:58128000-58129800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:58128000-58137400	Weak transcription	Fetal Kidney	kidney
35	chr8:58128000-58137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:58128400-58129200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:58128600-58128800	Weak transcription	Spleen	Spleen
38	chr8:58129200-58129600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr8:58129800-58135600	Enhancers	Fetal Muscle Leg	muscle
40	chr8:58130000-58132400	Enhancers	Fetal Muscle Trunk	muscle

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