Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182637961..182640711-chr2:182640767..182642873,2	MCF-7	breast:
2	chr2:182637643..182640339-chr2:182643105..182646087,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10173295	1.00[AMR][1000 genomes]
rs10178791	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183369	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884484	1.00[AMR][1000 genomes]
rs11884530	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889177	0.81[YRI][hapmap]
rs11898883	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904481	1.00[AMR][1000 genomes]
rs13385387	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412336	1.00[AMR][1000 genomes]
rs28730957	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043868	1.00[AMR][1000 genomes]
rs59024368	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405729	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030984	1.00[AMR][1000 genomes]
rs9288070	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288071	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288072	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630973	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630988	0.86[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182635400-182639400	Weak transcription	Osteobl	bone
2	chr2:182636400-182639400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:182636400-182645800	Weak transcription	Pancreas	Pancrea
4	chr2:182636600-182639400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:182636600-182640600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:182637000-182639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:182638400-182639400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:182638400-182640000	Enhancers	HMEC	breast
9	chr2:182638600-182640200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:182638600-182643400	Weak transcription	Placenta	Placenta
11	chr2:182638800-182640000	Enhancers	HSMMtube	muscle
12	chr2:182639000-182640000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:182639000-182640000	Enhancers	NHDF-Ad	bronchial
14	chr2:182639200-182639800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:182639200-182640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:182639200-182640000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:182639200-182640000	Enhancers	HSMM	muscle
18	chr2:182639200-182640000	Enhancers	NHEK	skin
19	chr2:182639200-182640200	Enhancers	Hela-S3	cervix
20	chr2:182639200-182644000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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