Variant report

Variant	rs1994307
Chromosome Location	chr4:172765498-172765499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1023975	0.91[CEU][hapmap]
rs11132917	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11132920	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs11722459	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12499968	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12503485	0.83[CEU][hapmap]
rs1872522	0.87[CEU][hapmap]
rs1965323	0.87[CEU][hapmap]
rs1994306	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2046482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478834	0.87[CEU][hapmap]
rs555947	0.87[CEU][hapmap]
rs6818860	0.83[CEU][hapmap];0.81[YRI][hapmap]
rs6840894	0.83[CEU][hapmap]
rs6854289	0.86[CEU][hapmap]
rs7676508	0.82[CEU][hapmap]
rs7691431	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022527	chr4:172547732-173236939	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv537357	chr4:172547732-173236939	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1024693	chr4:172609237-173236939	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172755800-172786000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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