Variant report

Variant	rs1194518
Chromosome Location	chr10:53987824-53987825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10824270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10824297	0.93[EUR][1000 genomes]
rs10824310	0.86[EUR][1000 genomes]
rs10824321	0.86[EUR][1000 genomes]
rs11001376	0.90[EUR][1000 genomes]
rs11001389	0.90[EUR][1000 genomes]
rs11001394	0.86[EUR][1000 genomes]
rs11001421	0.86[EUR][1000 genomes]
rs11001431	0.86[EUR][1000 genomes]
rs11001455	0.82[CHB][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap]
rs1194517	0.89[AFR][1000 genomes]
rs1194519	0.91[AFR][1000 genomes]
rs1194521	0.91[AFR][1000 genomes]
rs1194522	0.96[ASN][1000 genomes]
rs12569472	0.87[EUR][1000 genomes]
rs16928359	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16928725	0.86[EUR][1000 genomes]
rs16928871	0.86[EUR][1000 genomes]
rs1875793	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3793783	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs3829169	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs3898630	0.86[EUR][1000 genomes]
rs57497780	0.86[EUR][1000 genomes]
rs58198087	0.86[EUR][1000 genomes]
rs7085534	0.86[EUR][1000 genomes]
rs7086430	0.90[EUR][1000 genomes]
rs72787323	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72787326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787330	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72787333	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787341	0.86[EUR][1000 genomes]
rs7918883	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2621844	chr10:53982660-54033949	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv5974	chr10:53984049-54034016	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3377297	chr10:53984068-54034061	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3359737	chr10:53984078-54034047	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3361575	chr10:53984134-54034048	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3494769	chr10:53984145-54034011	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3494770	chr10:53984145-54034011	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3378490	chr10:53984169-54034027	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3376659	chr10:53984202-54033986	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3072	chr10:53984224-54034020	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv3371586	chr10:53984271-54033985	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53977000-53992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:53986200-53988200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:53986600-53992400	Weak transcription	NHLF	lung
4	chr10:53986800-53988000	Weak transcription	HMEC	breast
5	chr10:53986800-53988000	Weak transcription	NHEK	skin
6	chr10:53986800-53988200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:53986800-53989000	Weak transcription	NHDF-Ad	bronchial
8	chr10:53987200-53988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:53987800-53988200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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