Variant report

Variant	rs62511946
Chromosome Location	chr8:67288762-67288763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12545483	0.91[EUR][1000 genomes]
rs17404672	0.87[ASN][1000 genomes]
rs2114487	0.87[ASN][1000 genomes]
rs2162420	0.87[ASN][1000 genomes]
rs34077648	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56332328	0.87[ASN][1000 genomes]
rs56747323	0.87[ASN][1000 genomes]
rs57935379	0.87[ASN][1000 genomes]
rs58055402	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339037	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61747714	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511161	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511166	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511169	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511171	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511172	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511173	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511174	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511177	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511179	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62511184	1.00[EUR][1000 genomes]
rs62511215	1.00[EUR][1000 genomes]
rs62511948	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62511951	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472272	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989837	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7002496	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010555	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014297	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7015255	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73691528	0.87[ASN][1000 genomes]
rs7813259	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846153	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9693831	0.87[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv1007778	chr8:67288244-67290373	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
4	esv1826934	chr8:67288315-67290302	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
5	esv1833523	chr8:67288315-67290302	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
6	esv3322661	chr8:67288389-67289102	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67277000-67288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67281200-67290200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:67281400-67290400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:67288200-67289000	Enhancers	Placenta	Placenta

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