Variant report

Variant	rs173099
Chromosome Location	chr21:46150395-46150396
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	chr21:46144505..46146761-chr21:46147705..46150667,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004709	1.00[MEX][hapmap]
rs17004711	1.00[MEX][hapmap]
rs170965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173094	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs186847	0.89[ASN][1000 genomes]
rs186849	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs235287	0.87[EUR][1000 genomes]
rs235296	0.91[ASN][1000 genomes]
rs235386	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838630	0.85[CHB][hapmap]
rs405117	0.89[ASN][1000 genomes]
rs584681	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs584779	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs647688	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs690279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs690621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs7283084	0.85[CHB][hapmap]
rs7283406	0.85[CHB][hapmap]
rs9306107	1.00[MEX][hapmap]
rs9637188	0.85[CHB][hapmap]
rs9984930	1.00[MEX][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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46143600-46151600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46149600-46150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46149600-46155400	Weak transcription	Right Atrium	heart
4	chr21:46150000-46152000	Bivalent Enhancer	HepG2	liver

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