Variant report

Variant	rs4440243
Chromosome Location	chr4:77017680-77017681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10022137	1.00[ASN][1000 genomes]
rs10022519	1.00[ASN][1000 genomes]
rs10030683	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11097232	1.00[ASN][1000 genomes]
rs12331521	1.00[ASN][1000 genomes]
rs13139234	0.92[ASN][1000 genomes]
rs4241591	1.00[ASN][1000 genomes]
rs4274876	0.92[ASN][1000 genomes]
rs4624679	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4859613	0.92[ASN][1000 genomes]
rs4859619	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4859622	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6532181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6532230	0.82[AMR][1000 genomes]
rs6857166	0.82[AMR][1000 genomes]
rs7654988	1.00[ASN][1000 genomes]
rs7697711	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990550	1.00[ASN][1000 genomes]
rs9992976	1.00[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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77015200-77025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:77016400-77025000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:77016600-77017800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:77017000-77017800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:77017000-77034400	Weak transcription	Right Ventricle	heart

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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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