Variant report

Variant	rs2830895
Chromosome Location	chr21:28753241-28753242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1023381	0.83[ASN][1000 genomes]
rs1023382	0.82[ASN][1000 genomes]
rs1023383	0.83[ASN][1000 genomes]
rs11702075	0.83[ASN][1000 genomes]
rs11702106	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs11702121	0.83[ASN][1000 genomes]
rs13052258	1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1349598	0.99[ASN][1000 genomes]
rs1349599	0.99[ASN][1000 genomes]
rs1452093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1452094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1452095	1.00[CHB][hapmap];0.87[JPT][hapmap];0.98[ASN][1000 genomes]
rs1452096	0.82[ASN][1000 genomes]
rs1452097	0.82[ASN][1000 genomes]
rs1452098	0.82[ASN][1000 genomes]
rs1452099	0.83[ASN][1000 genomes]
rs1452100	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1452101	0.83[ASN][1000 genomes]
rs1571670	0.83[ASN][1000 genomes]
rs1597786	0.82[ASN][1000 genomes]
rs1597787	0.82[ASN][1000 genomes]
rs1597788	0.82[ASN][1000 genomes]
rs1597789	0.82[ASN][1000 genomes]
rs1817114	0.83[ASN][1000 genomes]
rs1869147	1.00[CHB][hapmap];0.87[JPT][hapmap];0.98[ASN][1000 genomes]
rs1893579	0.82[ASN][1000 genomes]
rs1893580	0.82[ASN][1000 genomes]
rs1893581	0.82[ASN][1000 genomes]
rs2123152	0.99[ASN][1000 genomes]
rs2218932	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2409205	0.82[ASN][1000 genomes]
rs2830860	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2830871	0.83[ASN][1000 genomes]
rs2830873	0.83[ASN][1000 genomes]
rs2830874	1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2830875	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2830876	0.82[ASN][1000 genomes]
rs2830877	0.81[ASN][1000 genomes]
rs2830878	0.83[ASN][1000 genomes]
rs2830879	0.81[ASN][1000 genomes]
rs2830880	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2830881	0.83[ASN][1000 genomes]
rs2830882	0.83[ASN][1000 genomes]
rs2830883	0.81[ASN][1000 genomes]
rs2830884	0.99[ASN][1000 genomes]
rs2830893	0.99[ASN][1000 genomes]
rs2830894	0.99[ASN][1000 genomes]
rs28555164	0.83[ASN][1000 genomes]
rs28692542	0.82[ASN][1000 genomes]
rs2898111	0.82[ASN][1000 genomes]
rs34495779	0.83[ASN][1000 genomes]
rs4589839	0.82[ASN][1000 genomes]
rs4589840	0.82[ASN][1000 genomes]
rs62222042	0.83[ASN][1000 genomes]
rs751950	0.82[ASN][1000 genomes]
rs751951	0.82[ASN][1000 genomes]
rs754017	0.83[ASN][1000 genomes]
rs986975	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs995532	0.82[ASN][1000 genomes]
rs995533	0.82[ASN][1000 genomes]
rs9975646	0.86[ASN][1000 genomes]
rs9976078	0.83[ASN][1000 genomes]
rs9976291	0.82[ASN][1000 genomes]
rs9976514	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9977499	0.83[ASN][1000 genomes]
rs9978787	1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs9980089	0.83[ASN][1000 genomes]
rs9982621	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1061112	chr21:28738028-28775601	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr21:28742200-28763600	Weak transcription	Left Ventricle	heart
2	chr21:28751000-28755200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:28752200-28754800	Weak transcription	Psoas Muscle	Psoas
4	chr21:28753000-28765400	Weak transcription	Ovary	ovary
5	chr21:28753200-28754400	Weak transcription	NHDF-Ad	bronchial
6	chr21:28753200-28754600	Weak transcription	Adipose Nuclei	Adipose

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