Variant report

Variant	rs4582543
Chromosome Location	chr8:69067352-69067353
allele	A/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	IRF1	chr8:69067291-69067790	K562	blood:	n/a	chr8:69067540-69067554 chr8:69067748-69067762 chr8:69067539-69067552 chr8:69067748-69067761 chr8:69067540-69067550
2	MAFK	chr8:69067278-69067567	IMR90	lung:	n/a	chr8:69067399-69067414
3	MAFF	chr8:69067311-69067528	HepG2	liver:	n/a	chr8:69067397-69067415
4	MAFK	chr8:69067276-69067540	HepG2	liver:	n/a	chr8:69067399-69067414
5	MAFK	chr8:69067274-69067556	K562	blood:	n/a	chr8:69067399-69067414
6	MAFF	chr8:69067221-69067556	K562	blood:	n/a	chr8:69067397-69067415
7	MAFK	chr8:69067297-69067523	H1-hESC	embryonic stem cell:	n/a	chr8:69067399-69067414
8	MAFK	chr8:69067270-69067474	HepG2	liver:	n/a	chr8:69067399-69067414

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:91347083..91349227-chr8:69066919..69069417,2	MCF-7	breast:

Variant related genes	Relation type
PREX2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12056532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12682041	0.95[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12682429	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16934224	0.83[AMR][1000 genomes]
rs2890423	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3793380	0.84[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4236959	0.85[AMR][1000 genomes]
rs4454258	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737253	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7831861	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843248	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][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	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1792589	chr8:69066748-69085741	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
2	chr8:69021000-69067600	Weak transcription	Right Ventricle	heart
3	chr8:69041000-69068400	Weak transcription	Lung	lung
4	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
5	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:69046800-69070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:69047000-69070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:69055800-69070800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:69061800-69074000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:69063800-69068200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:69065200-69067600	Enhancers	K562	blood
13	chr8:69065200-69070000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:69065200-69074000	Weak transcription	Left Ventricle	heart
15	chr8:69065600-69070600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:69066200-69067400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:69066200-69067400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:69066200-69067400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:69066600-69067600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:69066800-69067400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:69067000-69067400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:69067000-69082600	Weak transcription	Brain Anterior Caudate	brain
23	chr8:69067200-69070600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:69067200-69070600	Weak transcription	HUVEC	blood vessel
25	chr8:69067200-69074800	Weak transcription	H9 Cell Line	embryonic stem cell

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