Variant report

Variant	rs10942920
Chromosome Location	chr5:79604392-79604393
allele	C/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	YY1	chr5:79604364-79604717	H1-hESC	embryonic stem cell:	n/a	chr5:79604548-79604560
2	MAX	chr5:79604350-79604758	K562	blood:	n/a	n/a
3	YY1	chr5:79604377-79604598	GM12878	blood:	n/a	chr5:79604548-79604560
4	YY1	chr5:79604378-79604727	K562	blood:	n/a	chr5:79604548-79604560
5	YY1	chr5:79604357-79604741	H1-hESC	embryonic stem cell:	n/a	chr5:79604548-79604560

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79387918..79390143-chr5:79603120..79605214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251828	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10040789	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10040794	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056190	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10062770	1.00[JPT][hapmap]
rs10063479	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10805935	0.81[ASN][1000 genomes]
rs12654082	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12655069	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1500138	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1862136	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2112151	0.96[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161093	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216548	1.00[JPT][hapmap]
rs4478300	1.00[ASN][1000 genomes]
rs4703808	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4703809	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4704661	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704662	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59393042	0.92[ASN][1000 genomes]
rs6453514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6453515	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6859753	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6866850	0.82[YRI][hapmap]
rs6897248	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718110	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs7720696	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7722090	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs7734893	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7735071	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv980690	chr5:79591958-79614381	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr5:79598800-79605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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