Variant report

Variant	rs1564573
Chromosome Location	chr8:3432362-3432363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11777462	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11778159	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11780268	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11785740	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12675025	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs12680424	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12680864	0.81[CEU][hapmap]
rs12681260	0.90[JPT][hapmap]
rs12681886	0.83[ASN][1000 genomes]
rs13248151	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs13249863	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs13255417	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs13257567	0.85[JPT][hapmap];0.80[TSI][hapmap]
rs13258825	0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs13259862	0.84[CEU][hapmap]
rs13260637	0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs13265032	0.85[JPT][hapmap];0.80[TSI][hapmap]
rs13266061	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs13268363	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs13268547	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs13271481	0.81[EUR][1000 genomes]
rs13271642	0.84[EUR][1000 genomes]
rs13271675	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13271744	0.83[EUR][1000 genomes]
rs13272675	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13273391	0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs13273702	0.81[EUR][1000 genomes]
rs13275823	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs13281116	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs17395605	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1871887	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2170480	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2200075	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2449178	0.81[CEU][hapmap];0.93[TSI][hapmap]
rs2449181	0.85[CEU][hapmap]
rs2449184	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs2449185	0.85[CEU][hapmap]
rs35086868	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4645579	0.81[CEU][hapmap];0.94[CHB][hapmap]
rs4875739	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4875740	0.82[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4875741	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4875743	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs4875744	0.85[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4875745	1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs4875746	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4875747	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6558803	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap]
rs6996400	0.90[JPT][hapmap]
rs7816319	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs900213	0.83[MKK][hapmap]
rs900218	0.81[MKK][hapmap]
rs986183	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs986184	0.88[EUR][1000 genomes]
rs986945	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs986948	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1028926	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv539353	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv427813	chr8:3339350-3501515	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1564573	MYOM2	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3430000-3433000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:3431800-3433200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:3432000-3432600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:3432000-3433000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:3432000-3433000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:3432200-3432600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:3432200-3432600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:3432200-3432600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:3432200-3432600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:3432200-3433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:3432200-3433000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:3432200-3433000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:3432200-3433000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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