Variant report

Variant	rs4748844
Chromosome Location	chr10:23478779-23478780
allele	G/T
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	MAFK	chr10:23478599-23478910	HepG2	liver:	n/a	chr10:23478761-23478776
2	MAFK	chr10:23478600-23478802	HepG2	liver:	n/a	chr10:23478761-23478776
3	MAFF	chr10:23478616-23478870	HepG2	liver:	n/a	chr10:23478760-23478778

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:23476776..23479722-chr10:23481093..23483955,2	MCF-7	breast:
2	chr10:23474176..23477115-chr10:23477275..23479247,2	K562	blood:

Variant related genes	Relation type
PTF1A	TF binding region
ENSG00000168267	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10764397	0.86[AMR][1000 genomes]
rs10764398	0.82[CEU][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs10828415	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10828419	0.84[AMR][1000 genomes]
rs10828421	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10828422	0.86[AMR][1000 genomes]
rs10828423	0.86[AMR][1000 genomes]
rs10828426	0.80[JPT][hapmap]
rs10828431	0.93[MEX][hapmap]
rs11013356	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11013364	0.82[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs11013397	0.93[MEX][hapmap]
rs12246990	0.86[AMR][1000 genomes]
rs12571348	0.81[ASN][1000 genomes]
rs1998769	0.85[ASN][1000 genomes]
rs3891382	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs4072688	1.00[ASW][hapmap]
rs4144623	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4258280	0.86[AMR][1000 genomes]
rs4359107	0.86[AMR][1000 genomes]
rs4382803	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4433485	0.86[AMR][1000 genomes]
rs4454613	0.87[CHB][hapmap]
rs4603206	0.80[JPT][hapmap]
rs4626975	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4747453	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4747455	0.86[AMR][1000 genomes]
rs4747462	0.80[JPT][hapmap]
rs4748848	0.80[JPT][hapmap]
rs4748850	0.82[AMR][1000 genomes]
rs4748854	0.80[JPT][hapmap]
rs4748856	0.80[JPT][hapmap]
rs4748857	0.80[JPT][hapmap]
rs4748860	0.86[JPT][hapmap]
rs6482261	0.80[JPT][hapmap]
rs7075197	0.80[JPT][hapmap]
rs7095016	0.80[JPT][hapmap]
rs7907909	0.86[AMR][1000 genomes]
rs7919530	0.88[AMR][1000 genomes]
rs9888000	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825301	chr10:23440604-23505846	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv831810	chr10:23445647-23605270	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv825302	chr10:23457022-23497329	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2754706	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2756096	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv430137	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23478600-23479000	Enhancers	Pancreas	Pancrea

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