Variant report

Variant	rs2838634
Chromosome Location	chr21:46105038-46105039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10854463	0.90[CHB][hapmap]
rs1123949	0.80[CHB][hapmap]
rs1126382	0.81[CHB][hapmap]
rs12106369	0.95[CHB][hapmap]
rs12482870	0.90[CHB][hapmap]
rs12626853	0.84[JPT][hapmap]
rs13048478	0.88[JPT][hapmap]
rs1883039	0.90[CHB][hapmap]
rs1883041	0.81[CHB][hapmap]
rs1883043	0.81[CHB][hapmap]
rs2073437	0.86[CHB][hapmap]
rs2210285	0.81[CHB][hapmap]
rs2225433	0.91[CHB][hapmap]
rs2256361	0.90[CHB][hapmap]
rs2256490	0.90[CHB][hapmap]
rs2256496	0.90[CHB][hapmap]
rs2329845	0.84[JPT][hapmap]
rs2329893	0.80[CHB][hapmap]
rs2329894	0.81[CHB][hapmap]
rs2838614	0.90[CHB][hapmap]
rs2838617	0.90[CHB][hapmap]
rs2838618	0.91[CHB][hapmap]
rs2838619	0.91[CHB][hapmap]
rs2838622	0.84[JPT][hapmap]
rs2838623	0.91[CHB][hapmap]
rs2838624	0.91[CHB][hapmap]
rs2838625	0.90[CHB][hapmap]
rs2838627	0.90[CHB][hapmap]
rs2838636	0.81[CHB][hapmap]
rs2838638	0.81[CHB][hapmap]
rs4434080	0.81[CHB][hapmap]
rs4818728	0.85[CHB][hapmap]
rs4818953	0.90[CHB][hapmap]
rs5013900	0.81[CHB][hapmap]
rs6518198	0.81[CHB][hapmap]
rs6518199	0.81[CHB][hapmap]
rs7275203	0.91[CHB][hapmap]
rs7275666	0.90[CHB][hapmap]
rs7276859	0.84[JPT][hapmap]
rs8126793	0.81[CHB][hapmap]
rs8126811	0.84[JPT][hapmap]
rs8127010	0.81[CHB][hapmap]
rs8127265	0.81[CHB][hapmap]
rs926195	0.81[CHB][hapmap]
rs9306112	0.91[CHB][hapmap]
rs9983892	0.85[CHB][hapmap]
rs9984726	0.86[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: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	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
3	chr21:46104800-46106200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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