Variant report

Variant	rs13415558
Chromosome Location	chr2:54571161-54571162
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54560405..54562674-chr2:54570057..54572627,2	MCF-7	breast:
2	chr2:54569839..54572791-chr2:54629016..54630836,2	K562	blood:
3	chr2:54570432..54573126-chr2:54574195..54576367,2	K562	blood:
4	chr2:54570097..54573126-chr2:54573916..54576367,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10168899	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10177706	1.00[AMR][1000 genomes]
rs10182439	1.00[AMR][1000 genomes]
rs10184091	1.00[AMR][1000 genomes]
rs10184388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192536	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192849	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193885	1.00[AMR][1000 genomes]
rs10195165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195657	1.00[AMR][1000 genomes]
rs10196054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206181	1.00[AMR][1000 genomes]
rs10206939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207434	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207830	1.00[AMR][1000 genomes]
rs10209379	1.00[AMR][1000 genomes]
rs10210249	1.00[AMR][1000 genomes]
rs11125530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383434	1.00[AMR][1000 genomes]
rs13386127	1.00[AMR][1000 genomes]
rs13386211	1.00[AMR][1000 genomes]
rs13389240	1.00[AMR][1000 genomes]
rs13390991	1.00[AMR][1000 genomes]
rs13392879	1.00[AMR][1000 genomes]
rs13392982	1.00[AMR][1000 genomes]
rs13393792	1.00[AMR][1000 genomes]
rs13396310	1.00[AMR][1000 genomes]
rs13396318	1.00[AMR][1000 genomes]
rs13403112	1.00[AMR][1000 genomes]
rs13404835	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407955	1.00[AMR][1000 genomes]
rs13410757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411458	1.00[AMR][1000 genomes]
rs13415033	1.00[AMR][1000 genomes]
rs13419158	1.00[AMR][1000 genomes]
rs13423383	1.00[AMR][1000 genomes]
rs13423617	1.00[AMR][1000 genomes]
rs13423698	1.00[AMR][1000 genomes]
rs13425423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431239	1.00[AMR][1000 genomes]
rs28607569	1.00[AMR][1000 genomes]
rs28698214	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808395	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1831835	chr2:54565729-54573489	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv582020	chr2:54565729-54574825	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54558800-54574800	Weak transcription	Left Ventricle	heart
2	chr2:54564400-54571200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:54568600-54572000	Enhancers	Fetal Heart	heart
4	chr2:54569400-54587200	Weak transcription	Fetal Brain Male	brain
5	chr2:54570000-54574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:54570000-54575200	Weak transcription	Brain Hippocampus Middle	brain

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