Variant report

Variant	rs6551295
Chromosome Location	chr3:88263247-88263248
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	chr3:88260406..88263324-chr3:88267583..88270282,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1006896	0.80[ASN][1000 genomes]
rs10858	0.80[ASN][1000 genomes]
rs11925988	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13317202	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2735556	0.80[ASN][1000 genomes]
rs2735559	0.80[ASN][1000 genomes]
rs4858934	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858939	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858940	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859003	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55928667	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55932154	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56185750	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56211058	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56246133	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6419868	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6419869	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6551276	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6551281	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6551287	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73132512	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73132546	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73146085	0.80[ASN][1000 genomes]
rs73146095	0.80[ASN][1000 genomes]
rs73146099	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs73148006	1.00[AFR][1000 genomes]
rs7430022	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7432826	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7610494	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620576	0.95[EUR][1000 genomes]
rs7624215	0.97[EUR][1000 genomes]
rs7650068	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9284814	0.94[EUR][1000 genomes]
rs9826925	0.91[EUR][1000 genomes];0.93[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	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1013031	chr3:88256289-88347505	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6551295	CGGBP1///LOC728397	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88253400-88278200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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