Variant report

Variant	rs12680795
Chromosome Location	chr8:63839802-63839803
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63834445..63836856-chr8:63836928..63839834,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1017669	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10808726	0.85[CEU][hapmap]
rs10957249	0.85[CEU][hapmap]
rs12679775	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253399	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13255612	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13257884	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13272107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13280971	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1471042	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16929838	0.89[ASN][1000 genomes]
rs16929875	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28506994	0.82[EUR][1000 genomes]
rs34597813	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35567972	0.92[ASN][1000 genomes]
rs35814161	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4596652	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58073364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000612	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71527110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828305	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831888	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs979263	0.89[AMR][1000 genomes];0.86[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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831341	chr8:63658694-63852213	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63838600-63841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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