Variant report

Variant	rs9305318
Chromosome Location	chr21:28946062-28946063
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	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1379664	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1457923	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1457924	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457925	0.84[EUR][1000 genomes]
rs1598853	0.82[ASN][1000 genomes]
rs2219408	0.84[EUR][1000 genomes]
rs242342	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242352	0.93[ASN][1000 genomes]
rs2831004	0.81[EUR][1000 genomes]
rs2831019	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2898112	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs363984	0.84[ASN][1000 genomes]
rs376723	0.83[ASN][1000 genomes]
rs413522	0.84[ASN][1000 genomes]
rs417060	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4519610	0.93[ASN][1000 genomes]
rs453417	0.83[ASN][1000 genomes]
rs57426425	0.83[ASN][1000 genomes]
rs7280261	0.93[ASN][1000 genomes]
rs847531	0.82[ASN][1000 genomes]
rs915822	0.95[ASN][1000 genomes]
rs9305320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975163	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv587347	chr21:28930833-28951567	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv913669	chr21:28932087-28981553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28941800-28946200	Enhancers	NH-A	brain
2	chr21:28942800-28946400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:28943000-28946200	Enhancers	Osteobl	bone
4	chr21:28943000-28946600	Enhancers	NHDF-Ad	bronchial
5	chr21:28944000-28946200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:28945000-28946200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:28945000-28953600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:28945600-28946200	Enhancers	HSMM	muscle
9	chr21:28946000-28946600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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