Variant report

Variant	rs4272369
Chromosome Location	chr8:62627510-62627511
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	chr8:62626837-62627724	SK-N-SH	brain:	n/a	chr8:62627231-62627251 chr8:62627476-62627496
4	CCNT2	chr8:62626480-62627597	K562	blood:	n/a	chr8:62627212-62627221 chr8:62627293-62627302
5	ETS1	chr8:62626308-62627990	A549	lung:	n/a	chr8:62627212-62627223 chr8:62627008-62627019
6	RUNX3	chr8:62627256-62627643	GM12878	blood:	n/a	n/a
7	EP300	chr8:62627194-62627694	HepG2	liver:	n/a	chr8:62627288-62627304 chr8:62627488-62627504
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	STAT3	chr8:62626930-62627683	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr8:62627431-62627550	A549	lung:	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	REST	chr8:62626715-62627873	A549	lung:	n/a	chr8:62627068-62627088 chr8:62627041-62627059 chr8:62627069-62627087 chr8:62627082-62627092 chr8:62627080-62627094
16	CREB1	chr8:62626894-62627582	A549	lung:	n/a	n/a
17	MYC	chr8:62626826-62627853	K562	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
18	POLR2A	chr8:62626439-62627667	K562	blood:	n/a	n/a
19	TAF1	chr8:62626739-62627726	Hela-S3	cervix:	n/a	n/a
20	FOXA2	chr8:62626638-62627625	A549	lung:	n/a	n/a
21	CEBPB	chr8:62626884-62627955	A549	lung:	n/a	n/a
22	EGR1	chr8:62626788-62627801	MCF-7	breast:	n/a	chr8:62627491-62627505 chr8:62627213-62627226 chr8:62627211-62627221
23	POLR2A	chr8:62624043-62628324	U87	brain:	n/a	n/a
24	ARID3A	chr8:62626918-62627968	HepG2	liver:	n/a	n/a
25	MYC	chr8:62626581-62627775	MCF10A-Er-Src	breast:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
26	STAT1	chr8:62626961-62627663	GM12878	blood:	n/a	n/a
27	USF1	chr8:62627057-62627599	SK-N-SH_RA	brain:	n/a	chr8:62627104-62627120
28	POLR2A	chr8:62626482-62627906	K562	blood:	n/a	n/a
29	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
30	RFX5	chr8:62626957-62627609	HepG2	liver:	n/a	n/a
31	USF2	chr8:62627370-62627624	K562	blood:	n/a	n/a
32	POLR2A	chr8:62626621-62627838	GM12878	blood:	n/a	n/a
33	MYC	chr8:62626478-62627761	K562	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
34	POLR2A	chr8:62626663-62627790	MCF-7	breast:	n/a	n/a
35	POLR2A	chr8:62626716-62627660	MCF-7	breast:	n/a	n/a
36	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
37	BHLHE40	chr8:62626701-62628016	K562	blood:	n/a	chr8:62627005-62627021 chr8:62627104-62627120
38	POLR2A	chr8:62626575-62627610	GM18505	blood:	n/a	n/a
39	SIN3A	chr8:62626381-62627797	H1-hESC	embryonic stem cell:	n/a	chr8:62627082-62627091 chr8:62626562-62626573 chr8:62627110-62627121
40	MYC	chr8:62626923-62627644	K562	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
41	EGR1	chr8:62627364-62627600	GM12878	blood:	n/a	chr8:62627491-62627505
42	USF1	chr8:62626896-62627790	ECC-1	luminal epithelium:	n/a	chr8:62627005-62627021 chr8:62627104-62627120
43	MAX	chr8:62626891-62627839	HepG2	liver:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
44	SP2	chr8:62627031-62627551	HepG2	liver:	n/a	chr8:62627291-62627306 chr8:62627192-62627201
45	POLR2A	chr8:62626392-62627616	A549	lung:	n/a	n/a
46	CEBPB	chr8:62627337-62627790	A549	lung:	n/a	n/a
47	POLR2A	chr8:62626343-62628156	K562	blood:	n/a	n/a
48	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a
49	POLR2A	chr8:62626660-62627586	HUVEC	blood vessel:	n/a	n/a
50	ZBTB33	chr8:62627225-62627624	HepG2	liver:	n/a	chr8:62627414-62627429 chr8:62627414-62627424

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	chr8:62543072..62544840-chr8:62625541..62627950,2	K562	blood:
8	chr8:62550051..62552995-chr8:62624567..62627548,2	MCF-7	breast:
9	chr8:62625464..62627946-chr8:62695567..62698459,4	MCF-7	breast:
10	chr8:62626734..62628934-chr8:63949908..63951935,2	K562	blood:
11	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10090651	0.86[CEU][hapmap];0.90[YRI][hapmap]
rs10099866	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10108427	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111006	0.85[CEU][hapmap];0.84[YRI][hapmap]
rs11986004	0.85[CEU][hapmap];0.89[YRI][hapmap]
rs16927652	0.86[CEU][hapmap];0.87[YRI][hapmap]
rs16927767	0.86[CEU][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs17205360	0.85[CEU][hapmap]
rs17793991	0.83[CEU][hapmap]
rs2350917	0.85[CEU][hapmap];0.89[YRI][hapmap]
rs2350925	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs28409877	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4377960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4446731	0.80[AMR][1000 genomes]
rs4515541	0.86[CEU][hapmap]
rs4633055	0.82[CEU][hapmap];0.93[YRI][hapmap]
rs6471968	0.86[CEU][hapmap]
rs6549	0.85[CEU][hapmap]
rs6984286	0.85[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs6985520	0.85[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs6990099	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs7009611	0.86[CEU][hapmap];0.90[YRI][hapmap]
rs7840731	0.85[CEU][hapmap];0.86[YRI][hapmap]
rs7842421	0.86[CEU][hapmap]

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	chr8:62623200-62627600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:62623200-62627600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr8:62623600-62627600	Active TSS	Hela-S3	cervix
7	chr8:62623600-62627600	Active TSS	NHDF-Ad	bronchial
8	chr8:62623600-62627800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:62624000-62627600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:62624000-62627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:62624200-62627600	Active TSS	HSMMtube	muscle
12	chr8:62624400-62627600	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:62624400-62627600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:62624400-62627600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:62624400-62627600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr8:62624400-62627600	Active TSS	Fetal Intestine Large	intestine
17	chr8:62624400-62627600	Active TSS	Fetal Stomach	stomach
18	chr8:62624400-62627600	Active TSS	Osteobl	bone
19	chr8:62624600-62627600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr8:62624600-62627600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:62624600-62627600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:62624600-62627600	Active TSS	Brain Angular Gyrus	brain
23	chr8:62624600-62627600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr8:62624600-62627800	Active TSS	Aorta	Aorta
25	chr8:62624600-62627800	Active TSS	Colonic Mucosa	Colon
26	chr8:62624600-62627800	Active TSS	Placenta	Placenta
27	chr8:62624600-62627800	Active TSS	Left Ventricle	heart
28	chr8:62624600-62627800	Active TSS	Ovary	ovary
29	chr8:62624600-62627800	Active TSS	Psoas Muscle	Psoas
30	chr8:62624600-62627800	Active TSS	Right Atrium	heart
31	chr8:62624600-62628000	Active TSS	Right Ventricle	heart
32	chr8:62624800-62627600	Active TSS	Stomach Mucosa	stomach
33	chr8:62624800-62628000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:62625000-62627600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:62625200-62627600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:62625200-62627600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:62625200-62627600	Active TSS	Brain Anterior Caudate	brain
38	chr8:62625200-62627600	Active TSS	Brain Substantia Nigra	brain
39	chr8:62625400-62627600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:62625400-62627600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:62625400-62627600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:62625400-62627800	Active TSS	Thymus	Thymus
43	chr8:62625600-62627600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:62625600-62627600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:62625600-62627600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:62625800-62627800	Active TSS	Brain Hippocampus Middle	brain
47	chr8:62626000-62627600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:62626000-62627600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:62626000-62627600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:62626000-62627600	Active TSS	Colon Smooth Muscle	Colon

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