Variant report

Variant	rs17285827
Chromosome Location	chr5:112029740-112029741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1372220	0.82[EUR][1000 genomes]
rs17135067	0.86[EUR][1000 genomes]
rs17285372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17286230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17290064	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17357294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359859	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360045	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56052440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56235416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56328836	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57043077	0.86[EUR][1000 genomes]
rs73216225	1.00[EUR][1000 genomes]
rs73220038	0.86[EUR][1000 genomes]
rs7704566	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730944	1.00[AMR][1000 genomes];1.00[EUR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr5:112021800-112030600	Weak transcription	Osteobl	bone
2	chr5:112022600-112030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:112027000-112032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:112027200-112030600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112027200-112030800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:112027600-112030400	Weak transcription	Dnd41	blood
7	chr5:112029000-112030200	Enhancers	K562	blood
8	chr5:112029200-112030600	Weak transcription	HSMMtube	muscle

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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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