Variant report

Variant	rs17116849
Chromosome Location	chr5:154460278-154460279
allele	C/G
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:18)

rs_ID	r²[population]
rs10077934	0.86[ASN][1000 genomes]
rs13172264	0.81[ASN][1000 genomes]
rs17116820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17116855	1.00[ASN][1000 genomes]
rs17116862	1.00[ASN][1000 genomes]
rs17116872	1.00[ASN][1000 genomes]
rs17116886	1.00[ASN][1000 genomes]
rs17116912	0.93[ASN][1000 genomes]
rs17116922	0.93[ASN][1000 genomes]
rs286595	1.00[JPT][hapmap]
rs6859744	0.86[ASN][1000 genomes]
rs6883288	0.86[ASN][1000 genomes]
rs71577165	0.86[ASN][1000 genomes]
rs7715693	1.00[JPT][hapmap]
rs7719709	1.00[JPT][hapmap]
rs7722477	0.86[ASN][1000 genomes]
rs7733613	0.86[ASN][1000 genomes]
rs7733811	0.86[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	nsv1023588	chr5:154415586-154464455	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv883059	chr5:154457905-154556230	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154459600-154462200	Enhancers	NHEK	skin
2	chr5:154459600-154462600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:154459800-154461000	Enhancers	Fetal Heart	heart
4	chr5:154459800-154461600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:154460000-154461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:154460000-154462000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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