Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182627954..182630438-chr2:182634967..182637515,2	K562	blood:
2	chr2:182633948..182636625-chr2:182642874..182645576,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10173295	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10178791	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183369	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884106	0.82[YRI][hapmap]
rs11884484	1.00[AMR][1000 genomes]
rs11884530	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889177	0.90[YRI][hapmap]
rs11895507	0.81[YRI][hapmap]
rs11898883	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904385	0.88[YRI][hapmap]
rs11904481	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs13385387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404097	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407158	0.82[YRI][hapmap]
rs13412336	1.00[AMR][1000 genomes]
rs13415704	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28730957	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043868	1.00[AMR][1000 genomes]
rs59024368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030984	1.00[AMR][1000 genomes]
rs9288070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288071	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288075	0.86[YRI][hapmap]
rs9630973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 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	chr2:182634400-182636600	Enhancers	NHEK	skin
2	chr2:182634600-182637400	Enhancers	HMEC	breast
3	chr2:182634800-182636400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:182635000-182636200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:182635200-182636600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:182635400-182639400	Weak transcription	Osteobl	bone
7	chr2:182635600-182639000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:182635600-182639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:182635600-182639200	Weak transcription	Hela-S3	cervix

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