Variant report

Variant	rs2973468
Chromosome Location	chr5:90540879-90540880
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2048454	0.90[CHD][hapmap]
rs2941891	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2941905	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2973460	0.88[ASW][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs2973463	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2973470	0.81[ASN][1000 genomes]
rs4916708	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4916853	0.81[CHD][hapmap]
rs6859567	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7727632	0.83[CHB][hapmap]

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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90525000-90542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:90540200-90541400	Enhancers	Fetal Heart	heart
3	chr5:90540400-90541200	Enhancers	Aorta	Aorta
4	chr5:90540400-90541200	Enhancers	Psoas Muscle	Psoas
5	chr5:90540400-90541200	Enhancers	Right Atrium	heart
6	chr5:90540400-90541200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:90540400-90541400	Enhancers	HSMMtube	muscle
8	chr5:90540800-90541400	Active TSS	Skeletal Muscle Male	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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