Variant report

Variant	rs16949823
Chromosome Location	chr13:95091202-95091203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95086306..95087862-chr13:95090616..95092920,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1028805	1.00[CHD][hapmap]
rs1028806	0.89[CEU][hapmap];1.00[CHD][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11551042	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616807	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618471	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12864325	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12876569	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12877849	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16949829	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949834	0.89[CEU][hapmap];1.00[CHD][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949864	1.00[ASN][1000 genomes]
rs2031527	0.89[CEU][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41495446	0.89[CEU][hapmap];1.00[CHD][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4255654	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4318084	1.00[CHD][hapmap]
rs4773794	0.89[CEU][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4773795	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4773796	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61962247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61962248	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61962249	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61962250	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61964062	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61964063	1.00[ASN][1000 genomes]
rs61964064	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61964065	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61964066	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61964067	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61964068	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61964072	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67968378	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9670775	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][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	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16949823	TGDS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95087600-95097400	Weak transcription	Aorta	Aorta
2	chr13:95089000-95101600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:95090600-95097600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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