Variant report

Variant	rs13439225
Chromosome Location	chr8:62627107-62627108
allele	C/G
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	ZBTB33	chr8:62626900-62627803	A549	lung:	n/a	chr8:62627414-62627429 chr8:62627414-62627424
2	CEBPB	chr8:62626895-62628077	Hela-S3	cervix:	n/a	n/a
3	PBX3	chr8:62627088-62627418	GM12878	blood:	n/a	chr8:62627231-62627251
4	PBX3	chr8:62626837-62627724	SK-N-SH	brain:	n/a	chr8:62627231-62627251 chr8:62627476-62627496
5	POLR2A	chr8:62626859-62627116	GM12892	blood:	n/a	n/a
6	CCNT2	chr8:62626480-62627597	K562	blood:	n/a	chr8:62627212-62627221 chr8:62627293-62627302
7	ETS1	chr8:62626308-62627990	A549	lung:	n/a	chr8:62627212-62627223 chr8:62627008-62627019
8	HA-E2F1	chr8:62626394-62627911	MCF-7	breast:	n/a	chr8:62627212-62627221 chr8:62626720-62626729 chr8:62627013-62627022 chr8:62627011-62627021 chr8:62626941-62626951
9	TAF1	chr8:62626464-62627686	ECC-1	luminal epithelium:	n/a	n/a
10	NR2F2	chr8:62626636-62627444	K562	blood:	n/a	n/a
11	STAT3	chr8:62626930-62627683	MCF10A-Er-Src	breast:	n/a	n/a
12	YY1	chr8:62627021-62627635	SK-N-SH_RA	brain:	n/a	chr8:62627212-62627221
13	POLR2A	chr8:62626476-62627625	A549	lung:	n/a	n/a
14	YY1	chr8:62626985-62627645	SK-N-SH_RA	brain:	n/a	chr8:62627013-62627022 chr8:62627212-62627221 chr8:62627010-62627019
15	MAZ	chr8:62626372-62627509	GM12878	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
16	REST	chr8:62626715-62627873	A549	lung:	n/a	chr8:62627068-62627088 chr8:62627041-62627059 chr8:62627069-62627087 chr8:62627082-62627092 chr8:62627080-62627094
17	CREB1	chr8:62626894-62627582	A549	lung:	n/a	n/a
18	MYC	chr8:62626826-62627853	K562	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
19	CTCF	chr8:62626980-62627130	WERI-Rb-1	eye:	n/a	chr8:62627005-62627018
20	POLR2A	chr8:62626439-62627667	K562	blood:	n/a	n/a
21	TAF1	chr8:62626739-62627726	Hela-S3	cervix:	n/a	n/a
22	FOXA2	chr8:62626638-62627625	A549	lung:	n/a	n/a
23	CEBPB	chr8:62626884-62627955	A549	lung:	n/a	n/a
24	EGR1	chr8:62626788-62627801	MCF-7	breast:	n/a	chr8:62627491-62627505 chr8:62627213-62627226 chr8:62627211-62627221
25	POLR2A	chr8:62624043-62628324	U87	brain:	n/a	n/a
26	BCLAF1	chr8:62626877-62627444	K562	blood:	n/a	chr8:62627011-62627020
27	ARID3A	chr8:62626918-62627968	HepG2	liver:	n/a	n/a
28	MYC	chr8:62626581-62627775	MCF10A-Er-Src	breast:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
29	STAT1	chr8:62626961-62627663	GM12878	blood:	n/a	n/a
30	BCLAF1	chr8:62626781-62627256	GM12878	blood:	n/a	chr8:62627011-62627020
31	USF1	chr8:62627057-62627599	SK-N-SH_RA	brain:	n/a	chr8:62627104-62627120
32	POLR2A	chr8:62626482-62627906	K562	blood:	n/a	n/a
33	EP300	chr8:62626833-62627758	K562	blood:	n/a	chr8:62627005-62627021 chr8:62627011-62627027 chr8:62627288-62627304 chr8:62627012-62627028 chr8:62627697-62627706 chr8:62627488-62627504
34	RFX5	chr8:62626957-62627609	HepG2	liver:	n/a	n/a
35	POLR2A	chr8:62626621-62627838	GM12878	blood:	n/a	n/a
36	MYC	chr8:62626478-62627761	K562	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
37	POLR2A	chr8:62626663-62627790	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:62626716-62627660	MCF-7	breast:	n/a	n/a
39	CREB1	chr8:62626842-62627458	K562	blood:	n/a	n/a
40	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
41	BHLHE40	chr8:62626701-62628016	K562	blood:	n/a	chr8:62627005-62627021 chr8:62627104-62627120
42	POLR2A	chr8:62626575-62627610	GM18505	blood:	n/a	n/a
43	SIN3A	chr8:62626381-62627797	H1-hESC	embryonic stem cell:	n/a	chr8:62627082-62627091 chr8:62626562-62626573 chr8:62627110-62627121
44	MYC	chr8:62626923-62627644	K562	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
45	USF1	chr8:62626896-62627790	ECC-1	luminal epithelium:	n/a	chr8:62627005-62627021 chr8:62627104-62627120
46	MAX	chr8:62626891-62627839	HepG2	liver:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
47	SP2	chr8:62627031-62627551	HepG2	liver:	n/a	chr8:62627291-62627306 chr8:62627192-62627201
48	POLR2A	chr8:62626392-62627616	A549	lung:	n/a	n/a
49	POLR2A	chr8:62626343-62628156	K562	blood:	n/a	n/a
50	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62562880..62565070-chr8:62625933..62628017,2	K562	blood:
2	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
3	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr17:16118268..16119159-chr8:62627070..62627630,2	Hela-S3	cervix:
6	chr8:62627055..62627960-chr9:130330943..130331796,2	Hela-S3	cervix:
7	chr17:73083703..73084350-chr8:62626997..62627508,2	HCT-116	colon:
8	chr8:62543072..62544840-chr8:62625541..62627950,2	K562	blood:
9	chr8:62550051..62552995-chr8:62624567..62627548,2	MCF-7	breast:
10	chr8:62625464..62627946-chr8:62695567..62698459,4	MCF-7	breast:
11	chr10:28821239..28821798-chr8:62626647..62627478,2	NB4	blood:
12	chr8:62590920..62593781-chr8:62625568..62627166,2	MCF-7	breast:
13	chr8:62626734..62628934-chr8:63949908..63951935,2	K562	blood:
14	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:

Variant related genes	Relation type
MIR4470	TF binding region
ASPH	TF binding region
ENSG00000251127	Chromatin interaction
ENSG00000095787	Chromatin interaction
ENSG00000137563	Chromatin interaction
ENSG00000136830	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000222898	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000170190	Chromatin interaction
ENSG00000254119	Chromatin interaction
ENSG00000254635	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10095911	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10107157	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28587878	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28793942	0.95[EUR][1000 genomes]
rs3195249	0.95[EUR][1000 genomes]
rs73269297	0.95[EUR][1000 genomes]
rs73269300	0.95[EUR][1000 genomes]
rs73269302	0.95[EUR][1000 genomes]
rs73271212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271213	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62622400-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:62622800-62627600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:62623000-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:62623200-62627400	Active TSS	NHLF	lung
5	chr8:62623200-62627600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62623200-62627600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:62623600-62627600	Active TSS	Hela-S3	cervix
8	chr8:62623600-62627600	Active TSS	NHDF-Ad	bronchial
9	chr8:62623600-62627800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:62623800-62627400	Active TSS	K562	blood
11	chr8:62624000-62627200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:62624000-62627400	Active TSS	HMEC	breast
13	chr8:62624000-62627600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:62624000-62627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:62624200-62627600	Active TSS	HSMMtube	muscle
16	chr8:62624400-62627400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr8:62624400-62627400	Active TSS	HSMM	muscle
18	chr8:62624400-62627600	Active TSS	Brain Cingulate Gyrus	brain
19	chr8:62624400-62627600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:62624400-62627600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:62624400-62627600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:62624400-62627600	Active TSS	Fetal Intestine Large	intestine
23	chr8:62624400-62627600	Active TSS	Fetal Stomach	stomach
24	chr8:62624400-62627600	Active TSS	Osteobl	bone
25	chr8:62624600-62627400	Active TSS	Fetal Thymus	thymus
26	chr8:62624600-62627600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr8:62624600-62627600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:62624600-62627600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:62624600-62627600	Active TSS	Brain Angular Gyrus	brain
30	chr8:62624600-62627600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:62624600-62627800	Active TSS	Aorta	Aorta
32	chr8:62624600-62627800	Active TSS	Colonic Mucosa	Colon
33	chr8:62624600-62627800	Active TSS	Placenta	Placenta
34	chr8:62624600-62627800	Active TSS	Left Ventricle	heart
35	chr8:62624600-62627800	Active TSS	Ovary	ovary
36	chr8:62624600-62627800	Active TSS	Psoas Muscle	Psoas
37	chr8:62624600-62627800	Active TSS	Right Atrium	heart
38	chr8:62624600-62628000	Active TSS	Right Ventricle	heart
39	chr8:62624800-62627400	Active TSS	GM12878-XiMat	blood
40	chr8:62624800-62627600	Active TSS	Stomach Mucosa	stomach
41	chr8:62624800-62628000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:62625000-62627400	Active TSS	NH-A	brain
43	chr8:62625000-62627600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:62625200-62627400	Active TSS	Stomach Smooth Muscle	stomach
45	chr8:62625200-62627600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:62625200-62627600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:62625200-62627600	Active TSS	Brain Anterior Caudate	brain
48	chr8:62625200-62627600	Active TSS	Brain Substantia Nigra	brain
49	chr8:62625400-62627400	Active TSS	Fetal Muscle Trunk	muscle
50	chr8:62625400-62627600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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