Variant report

Variant	rs12800576
Chromosome Location	chr11:16595763-16595764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16594124..16596937-chr11:16631797..16633860,2	K562	blood:
2	chr11:16419446..16421077-chr11:16594061..16596211,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10734249	0.86[CHB][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap]
rs10741708	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs12786352	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12786367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12786641	0.87[EUR][1000 genomes]
rs12787015	0.84[EUR][1000 genomes]
rs12787119	0.84[EUR][1000 genomes]
rs12791781	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12793714	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12793829	0.87[EUR][1000 genomes]
rs12794768	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12796718	0.84[EUR][1000 genomes]
rs12798430	0.87[EUR][1000 genomes]
rs12799243	0.86[EUR][1000 genomes]
rs12799800	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12799969	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12802250	0.85[EUR][1000 genomes]
rs12804277	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12808748	0.84[EUR][1000 genomes]
rs1846936	0.85[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap]
rs1967192	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34097789	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34156428	0.83[EUR][1000 genomes]
rs34168776	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34221263	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34241215	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34310036	0.87[EUR][1000 genomes]
rs34391086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506786	0.87[EUR][1000 genomes]
rs34793179	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34812104	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35199438	0.94[ASN][1000 genomes]
rs35301664	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35305792	0.87[EUR][1000 genomes]
rs35359042	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35384953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35486927	0.87[EUR][1000 genomes]
rs35563581	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35670829	0.84[EUR][1000 genomes]
rs35708656	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35843825	0.84[EUR][1000 genomes]
rs35885398	0.87[EUR][1000 genomes]
rs35911416	0.87[EUR][1000 genomes]
rs35925952	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36141792	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36167657	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3802963	0.85[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap]
rs3921675	0.82[ASN][1000 genomes]
rs4130469	0.87[EUR][1000 genomes]
rs4132854	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4396254	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs5001406	0.86[EUR][1000 genomes]
rs57897281	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57998337	0.84[EUR][1000 genomes]
rs60084903	0.87[EUR][1000 genomes]
rs60406205	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66601782	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66670205	0.94[ASN][1000 genomes]
rs67445592	0.84[EUR][1000 genomes]
rs67891751	0.84[EUR][1000 genomes]
rs7101556	0.81[EUR][1000 genomes]
rs7109165	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7110136	0.83[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap]
rs7125262	0.85[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.81[LWK][hapmap];0.83[TSI][hapmap]
rs73433598	0.81[EUR][1000 genomes]
rs7927277	0.84[EUR][1000 genomes]
rs7939925	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7945007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs7950287	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs7951786	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv983173	chr11:16581343-16600284	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12800576	C11orf58	cis	cerebellum	SCAN
rs12800576	C11orf58	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16584400-16605600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:16593400-16598400	Weak transcription	Left Ventricle	heart
3	chr11:16595200-16597000	Weak transcription	Fetal Heart	heart
4	chr11:16595200-16598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:16595200-16608200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:16595400-16609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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