Variant report

Variant	rs4650002
Chromosome Location	chr1:75052701-75052702
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	MYC	chr1:75052364-75052703	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000234497	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10493546	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10789398	0.88[EUR][1000 genomes]
rs10789399	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs10890133	0.88[EUR][1000 genomes]
rs10890136	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10890137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10890138	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs11210488	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11210489	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11210490	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs11210492	0.82[CEU][hapmap];0.88[JPT][hapmap]
rs12029405	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12074297	0.88[EUR][1000 genomes]
rs12117493	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1340987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1424667	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1563291	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs17548925	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1834189	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs3845350	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3845355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4123382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs6660278	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6671066	0.89[CEU][hapmap]
rs6700243	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs6701034	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs72675359	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72675360	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9326117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv870824	chr1:75019390-75125581	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75052400-75052800	Active TSS	Placenta	Placenta
2	chr1:75052600-75053200	Weak transcription	Liver	Liver

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