Variant report

Variant	rs2822624
Chromosome Location	chr21:15730137-15730138
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	chr21:15725007..15727450-chr21:15727478..15730890,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1040330	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12479	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13048179	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13048477	0.88[ASN][1000 genomes]
rs2037941	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2822629	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2822631	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2822632	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2822636	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2822638	0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2822642	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2822644	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2822649	0.83[JPT][hapmap]
rs2822650	0.83[JPT][hapmap]
rs2822652	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2822655	0.80[ASN][1000 genomes]
rs2822662	0.91[JPT][hapmap]
rs7276170	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7282521	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9974630	0.82[ASN][1000 genomes]
rs9978374	0.82[ASN][1000 genomes]
rs9982492	0.96[AFR][1000 genomes];0.92[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	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2822624	HSPA13	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15729400-15730400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:15729600-15731000	Weak transcription	HMEC	breast
3	chr21:15729600-15731000	Weak transcription	NHEK	skin
4	chr21:15729600-15733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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