Variant report

Variant	rs10054226
Chromosome Location	chr5:146639317-146639318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10059378	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10060530	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061700	0.81[AFR][1000 genomes]
rs10064995	1.00[JPT][hapmap]
rs10077015	0.87[YRI][hapmap]
rs10077515	1.00[JPT][hapmap]
rs11741401	1.00[JPT][hapmap]
rs11742132	1.00[JPT][hapmap]
rs11954258	1.00[JPT][hapmap]
rs11955126	1.00[JPT][hapmap]
rs12054990	1.00[JPT][hapmap]
rs12055338	1.00[JPT][hapmap]
rs17106339	0.98[AFR][1000 genomes]
rs17547843	1.00[JPT][hapmap]
rs59248639	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6880670	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891535	1.00[JPT][hapmap]
rs73794341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7710326	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3411143	chr5:146639214-146640140	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146622200-146640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:146628600-146659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:146638400-146639600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:146639200-146640000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:146639200-146640000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
6	chr5:146639200-146642800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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