Variant report

Variant	rs74122288
Chromosome Location	chr1:171200451-171200452
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10912559	1.00[EUR][1000 genomes]
rs28369797	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369800	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369869	1.00[AFR][1000 genomes]
rs28369880	1.00[AFR][1000 genomes]
rs28369899	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369907	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369908	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369911	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28384824	0.94[AFR][1000 genomes]
rs56395556	1.00[EUR][1000 genomes]
rs61098520	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6661174	1.00[EUR][1000 genomes]
rs6664553	1.00[EUR][1000 genomes]
rs6671692	1.00[EUR][1000 genomes]
rs6672456	1.00[EUR][1000 genomes]
rs6701702	1.00[EUR][1000 genomes]
rs73032532	1.00[EUR][1000 genomes]
rs74122248	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122251	1.00[EUR][1000 genomes]
rs74122253	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122277	1.00[EUR][1000 genomes]
rs74122278	1.00[EUR][1000 genomes]
rs74122279	1.00[EUR][1000 genomes]
rs74122291	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122299	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122301	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122302	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7517460	1.00[EUR][1000 genomes]
rs7536646	1.00[EUR][1000 genomes]
rs7536745	1.00[EUR][1000 genomes]

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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong 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	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171199000-171202600	Enhancers	Fetal Lung	lung
2	chr1:171200400-171200800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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