Variant report

Variant	rs10055339
Chromosome Location	chr5:114973120-114973121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038493	0.82[CEU][hapmap]
rs10043094	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10051170	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10055514	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10060594	0.83[AMR][1000 genomes]
rs10069695	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10073505	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10075869	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10077239	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10079000	1.00[CEU][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11953315	0.83[AMR][1000 genomes]
rs11957931	0.94[CHB][hapmap]
rs13153908	0.89[EUR][1000 genomes]
rs2052834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256963	0.91[ASN][1000 genomes]
rs56104517	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6594895	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs746566	1.00[CEU][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9326970	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114970400-114974000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:114970600-114973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:114970600-114973400	Weak transcription	NHDF-Ad	bronchial
4	chr5:114970600-114974400	Weak transcription	Liver	Liver
5	chr5:114971600-114975400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:114971800-114976800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:114972000-114975600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:114972200-114973600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:114972400-114974000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:114972800-114974400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:114972800-114976800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:114972800-114977000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:114973000-114973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:114973000-114973400	Bivalent Enhancer	GM12878-XiMat	blood
15	chr5:114973000-114974200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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