Variant report

Variant	rs468057
Chromosome Location	chr21:40217306-40217307
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	chr21:40181085..40183143-chr21:40216302..40218892,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1009122	0.81[EUR][1000 genomes]
rs1009123	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11700716	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13047489	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13047716	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13048664	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1534827	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1882734	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1893203	0.81[EUR][1000 genomes]
rs1893204	0.81[EUR][1000 genomes]
rs2015748	0.94[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836697	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836700	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836703	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs374575	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs455328	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs456574	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs464366	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs464476	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs465657	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs55938987	0.81[EUR][1000 genomes]
rs7276433	0.81[EUR][1000 genomes]
rs7279430	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7281107	0.81[EUR][1000 genomes]
rs7281192	0.81[EUR][1000 genomes]
rs7281242	0.81[EUR][1000 genomes]
rs7281259	0.81[EUR][1000 genomes]
rs7281698	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs877372	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs909103	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40213000-40219200	Weak transcription	Right Atrium	heart
4	chr21:40213800-40219200	Weak transcription	Hela-S3	cervix
5	chr21:40214400-40219200	Weak transcription	Fetal Stomach	stomach
6	chr21:40215800-40219400	Weak transcription	NH-A	brain
7	chr21:40216000-40219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40216200-40219000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:40216400-40219000	Weak transcription	NHEK	skin
10	chr21:40216400-40219400	Weak transcription	HSMMtube	muscle
11	chr21:40216400-40221200	Weak transcription	HUVEC	blood vessel
12	chr21:40216600-40219200	Weak transcription	HMEC	breast
13	chr21:40216600-40219400	Weak transcription	NHDF-Ad	bronchial
14	chr21:40216800-40219200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:40216800-40219200	Weak transcription	Osteobl	bone
16	chr21:40217200-40219200	Weak transcription	Muscle Satellite Cultured Cells	--

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