Variant report

Variant	rs2037923
Chromosome Location	chr21:40525287-40525288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11700813	0.81[ASN][1000 genomes]
rs1980407	0.82[ASN][1000 genomes]
rs2836926	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs2836930	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs2836931	0.87[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs3171465	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs34705151	0.82[ASN][1000 genomes]
rs383967	0.81[CHD][hapmap]
rs4816617	0.82[ASN][1000 genomes]
rs6517518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279497	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs8130240	0.82[ASN][1000 genomes]
rs8131132	0.82[ASN][1000 genomes]
rs8134214	0.82[ASN][1000 genomes]
rs8134843	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2037923	BRWD1	cis	Lymphoblastoid	GTEx
rs2037923	C21orf107	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40525000-40525600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr21:40525000-40525800	Enhancers	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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