Variant report

Variant	rs228819
Chromosome Location	chr6:39110432-39110433
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:75704444..75707093-chr6:39110397..39113378,2	K562	blood:

Variant related genes	Relation type
ENSG00000265843	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1019772	0.83[EUR][1000 genomes]
rs1155348	1.00[AFR][1000 genomes]
rs12665144	1.00[ASW][hapmap]
rs1366322	0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1366324	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1366325	0.81[CEU][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1465570	1.00[ASW][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes]
rs1544934	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1835004	0.83[EUR][1000 genomes]
rs1896681	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2162838	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2268635	1.00[ASW][hapmap]
rs228803	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs228820	0.99[ASN][1000 genomes]
rs228823	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300612	1.00[ASW][hapmap]
rs2815056	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2815074	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs2815075	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2815079	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2815088	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2815090	1.00[ASW][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2815092	0.81[JPT][hapmap];1.00[AFR][1000 genomes]
rs412724	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962311	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][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	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs228819	C6orf64	cis	parietal	SCAN
rs228819	C6orf222	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39109200-39111000	Weak transcription	Right Atrium	heart
2	chr6:39109400-39112800	Weak transcription	Left Ventricle	heart
3	chr6:39109600-39113800	Enhancers	Adipose Nuclei	Adipose

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