Variant report

Variant	rs6449562
Chromosome Location	chr5:61177380-61177381
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10059717	0.84[MEX][hapmap]
rs10062532	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10075885	1.00[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1374002	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1445875	0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1596802	0.81[ASN][1000 genomes]
rs16895637	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1995274	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4699989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[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	nsv1020693	chr5:61098865-61357032	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv965604	chr5:61171281-61182073	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61174800-61177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:61177000-61178000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:61177200-61177600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:61177200-61177600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:61177200-61177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:61177200-61178000	Enhancers	HMEC	breast
7	chr5:61177200-61178000	Enhancers	NHEK	skin
8	chr5:61177200-61178200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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

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