Variant report

Variant	rs11700813
Chromosome Location	chr21:40517469-40517470
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	chr21:40187682..40190648-chr21:40515051..40517560,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11088466	0.82[EUR][1000 genomes]
rs1980407	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2037923	0.81[ASN][1000 genomes]
rs2150411	0.85[EUR][1000 genomes]
rs2150413	0.81[EUR][1000 genomes]
rs2150414	0.81[EUR][1000 genomes]
rs2297256	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2836922	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836926	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836930	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836931	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836934	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836940	0.81[EUR][1000 genomes]
rs2836942	0.81[EUR][1000 genomes]
rs2836943	0.82[EUR][1000 genomes]
rs2836945	0.82[EUR][1000 genomes]
rs2836948	0.81[EUR][1000 genomes]
rs3171465	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34705151	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4816617	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4816618	0.81[EUR][1000 genomes]
rs4818001	0.84[EUR][1000 genomes]
rs7276046	0.82[EUR][1000 genomes]
rs7279497	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8127379	0.82[EUR][1000 genomes]
rs8130240	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8130320	0.83[EUR][1000 genomes]
rs8131132	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8132143	0.82[EUR][1000 genomes]
rs8132424	0.82[EUR][1000 genomes]
rs8134214	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8134843	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[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	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11700813	PSMG1	cis	Artery Tibial	GTEx
rs11700813	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs11700813	HMGN1	cis	multi-tissue	Pritchard
rs11700813	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40514200-40520200	Weak transcription	Psoas Muscle	Psoas
2	chr21:40517000-40517800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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