Variant report

Variant	rs1883042
Chromosome Location	chr21:46101022-46101023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1107120	0.90[JPT][hapmap]
rs1123949	0.91[JPT][hapmap]
rs1126382	0.91[JPT][hapmap]
rs13046870	0.99[ASN][1000 genomes]
rs13046973	0.99[ASN][1000 genomes]
rs13049393	0.99[ASN][1000 genomes]
rs13052999	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883043	0.91[JPT][hapmap]
rs2210285	0.91[JPT][hapmap]
rs2329845	0.80[GIH][hapmap]
rs2329893	0.91[JPT][hapmap]
rs2329894	0.91[JPT][hapmap]
rs2838621	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838622	0.80[GIH][hapmap]
rs2838629	0.81[JPT][hapmap]
rs2838635	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838636	0.91[JPT][hapmap]
rs2838638	0.91[JPT][hapmap]
rs2838651	0.81[JPT][hapmap]
rs28681623	0.83[AFR][1000 genomes]
rs4050979	0.81[JPT][hapmap]
rs4434080	0.91[JPT][hapmap]
rs4818965	0.82[ASW][hapmap];0.87[LWK][hapmap]
rs5013900	0.86[JPT][hapmap]
rs6518198	0.91[JPT][hapmap]
rs6518199	0.91[JPT][hapmap]
rs6518202	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281329	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8126793	0.91[JPT][hapmap]
rs8127010	0.91[JPT][hapmap]
rs8127265	0.91[JPT][hapmap]
rs8129342	0.91[JPT][hapmap]
rs8131699	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8132352	0.86[JPT][hapmap]
rs8132832	0.91[JPT][hapmap]
rs8134266	0.91[JPT][hapmap]
rs926195	0.91[JPT][hapmap]
rs9647234	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.99[ASN][1000 genomes]
rs9647235	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.99[ASN][1000 genomes]

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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46094200-46106800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:46098200-46104600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46101000-46122200	Weak transcription	Right Atrium	heart

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