Variant report

Variant	rs405117
Chromosome Location	chr21:46154761-46154762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46153888..46156616-chr21:46360093..46361664,2	MCF-7	breast:
2	chr21:45938263..45941219-chr21:46154705..46156912,2	K562	blood:
3	chr21:46131739..46133739-chr21:46153651..46155172,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs170965	0.89[ASN][1000 genomes]
rs170966	0.89[ASN][1000 genomes]
rs173099	0.89[ASN][1000 genomes]
rs180316	0.98[EUR][1000 genomes]
rs186847	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186849	0.87[ASN][1000 genomes]
rs235296	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs235347	0.98[EUR][1000 genomes]
rs235349	0.98[EUR][1000 genomes]
rs235386	0.89[ASN][1000 genomes]
rs2570976	0.98[EUR][1000 genomes]
rs2838630	0.85[CHB][hapmap]
rs437719	0.98[EUR][1000 genomes]
rs584681	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs584779	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs647688	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs690279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes]
rs690621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes]
rs7283084	0.85[CHB][hapmap]
rs7283406	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46149600-46155400	Weak transcription	Right Atrium	heart
2	chr21:46151600-46155200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr21:46153000-46155000	Enhancers	Adipose Nuclei	Adipose
4	chr21:46153600-46157200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:46154000-46155000	Bivalent Enhancer	HepG2	liver
6	chr21:46154400-46156200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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