Variant report

Variant	rs31464
Chromosome Location	chr5:16938569-16938570
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	MAFK	chr5:16938344-16938589	HepG2	liver:	n/a	chr5:16938447-16938464

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16913129..16917002-chr5:16934060..16938960,5	MCF-7	breast:

Variant related genes	Relation type
MYO10	TF binding region
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10068690	0.81[GIH][hapmap]
rs13185182	0.80[EUR][1000 genomes]
rs13354237	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016972	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016983	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016997	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2170642	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2217341	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2434960	1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs2434962	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2449479	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2454879	0.90[ASN][1000 genomes]
rs249137	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs249138	0.83[ASN][1000 genomes]
rs2562351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2562361	0.89[ASN][1000 genomes]
rs2562362	0.89[ASN][1000 genomes]
rs2562363	0.88[ASN][1000 genomes]
rs2562364	0.90[ASN][1000 genomes]
rs2562365	0.90[ASN][1000 genomes]
rs2562366	0.90[ASN][1000 genomes]
rs2562367	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2625177	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs2625178	0.84[ASN][1000 genomes]
rs2625179	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2625180	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2625181	0.89[ASN][1000 genomes]
rs2625182	0.89[ASN][1000 genomes]
rs2625183	0.90[ASN][1000 genomes]
rs2625184	0.90[ASN][1000 genomes]
rs2625185	0.90[ASN][1000 genomes]
rs2625186	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2625187	0.90[ASN][1000 genomes]
rs2625188	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2625191	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2650457	0.89[ASN][1000 genomes]
rs2650458	0.86[ASN][1000 genomes]
rs2650459	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29453	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs29455	0.82[CHB][hapmap]
rs31452	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31453	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31457	0.81[GIH][hapmap]
rs31463	0.81[GIH][hapmap]
rs40984	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs922881	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16937400-16938800	Weak transcription	HUVEC	blood vessel
2	chr5:16938200-16957600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:16938400-16938600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:16938400-16940000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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