Variant report

Variant	rs6580136
Chromosome Location	chr5:154488994-154488995
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	chr5:154485065..154487069-chr5:154488163..154490065,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10035182	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10050521	0.84[ASN][1000 genomes]
rs10050836	0.96[ASN][1000 genomes]
rs1005789	0.83[ASN][1000 genomes]
rs10060354	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10066196	0.96[ASN][1000 genomes]
rs10066219	0.96[ASN][1000 genomes]
rs10066223	0.96[ASN][1000 genomes]
rs10076907	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10078699	0.83[ASN][1000 genomes]
rs1008795	0.86[ASN][1000 genomes]
rs10476812	0.84[ASN][1000 genomes]
rs10476814	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11167712	0.84[ASN][1000 genomes]
rs13155597	0.85[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1469446	0.82[AMR][1000 genomes]
rs1549647	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1549648	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17572520	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17573136	0.82[ASN][1000 genomes]
rs1985783	0.83[EUR][1000 genomes]
rs2081965	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2081966	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35479770	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35656480	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4958779	0.85[ASN][1000 genomes]
rs55957739	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6897414	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7702812	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7703459	0.83[ASN][1000 genomes]
rs7703759	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9324804	0.82[ASN][1000 genomes]
rs9324805	0.82[ASN][1000 genomes]
rs961812	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883059	chr5:154457905-154556230	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv274987	chr5:154487590-154489402	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6580136	CNOT8	cis	cerebellum	SCAN
rs6580136	ANXA6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154486800-154489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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