Variant report

Variant	rs57350749
Chromosome Location	chr15:45416790-45416791
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45410580..45412317-chr15:45415759..45418660,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10152927	1.00[EUR][1000 genomes]
rs10162724	1.00[EUR][1000 genomes]
rs10467911	1.00[EUR][1000 genomes]
rs10467978	1.00[EUR][1000 genomes]
rs11070446	1.00[EUR][1000 genomes]
rs11504668	1.00[EUR][1000 genomes]
rs12324044	1.00[EUR][1000 genomes]
rs13380419	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940825	1.00[EUR][1000 genomes]
rs16940836	1.00[EUR][1000 genomes]
rs16941118	1.00[EUR][1000 genomes]
rs16941127	1.00[EUR][1000 genomes]
rs16941245	1.00[EUR][1000 genomes]
rs16941355	1.00[EUR][1000 genomes]
rs16977579	1.00[EUR][1000 genomes]
rs17215605	1.00[EUR][1000 genomes]
rs2413770	1.00[EUR][1000 genomes]
rs2413779	1.00[EUR][1000 genomes]
rs2413781	1.00[EUR][1000 genomes]
rs2467831	1.00[EUR][1000 genomes]
rs28822532	1.00[EUR][1000 genomes]
rs28881324	1.00[EUR][1000 genomes]
rs3893997	1.00[EUR][1000 genomes]
rs56166527	1.00[EUR][1000 genomes]
rs56970738	1.00[EUR][1000 genomes]
rs58361817	1.00[EUR][1000 genomes]
rs60071040	1.00[EUR][1000 genomes]
rs60731128	1.00[EUR][1000 genomes]
rs61733393	1.00[EUR][1000 genomes]
rs6493133	1.00[EUR][1000 genomes]
rs7163607	1.00[EUR][1000 genomes]
rs7171901	1.00[EUR][1000 genomes]
rs73406323	1.00[EUR][1000 genomes]
rs73406325	1.00[EUR][1000 genomes]
rs73413510	1.00[EUR][1000 genomes]
rs73413518	1.00[EUR][1000 genomes]
rs73413524	1.00[EUR][1000 genomes]
rs73413539	1.00[EUR][1000 genomes]
rs73413553	1.00[EUR][1000 genomes]
rs73413567	1.00[EUR][1000 genomes]
rs73413599	1.00[EUR][1000 genomes]
rs73415960	1.00[EUR][1000 genomes]
rs8023604	1.00[EUR][1000 genomes]
rs8037964	1.00[EUR][1000 genomes]
rs8041776	1.00[EUR][1000 genomes]
rs9972443	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv904185	chr15:45394406-45428390	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904186	chr15:45394406-45434493	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
12	esv1002924	chr15:45412284-45424799	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	nsv569313	chr15:45413541-45457458	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45410200-45418400	Weak transcription	Gastric	stomach
2	chr15:45410200-45421000	Weak transcription	Lung	lung
3	chr15:45410400-45421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:45414800-45420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:45415200-45420400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:45415200-45420800	Weak transcription	NHEK	skin
7	chr15:45416000-45420400	Weak transcription	Esophagus	oesophagus

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