Variant report

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182815537..182821500-chr2:182882210..182887020,9	MCF-7	breast:
2	chr2:182882960..182887260-chr2:182931387..182935614,8	MCF-7	breast:
3	chr2:182882713..182885519-chr2:182907947..182910260,2	K562	blood:
4	chr2:182880540..182889219-chr2:182930483..182937514,17	MCF-7	breast:
5	chr2:182755546..182763410-chr2:182881457..182887322,14	MCF-7	breast:
6	chr2:182754599..182765670-chr2:182881701..182887661,28	MCF-7	breast:
7	chr2:182879005..182882272-chr2:182882883..182886992,5	MCF-7	breast:
8	chr2:182880362..182889935-chr2:182937119..182944893,30	MCF-7	breast:
9	chr2:182788506..182790558-chr2:182882645..182885587,2	MCF-7	breast:
10	chr2:182806851..182810464-chr2:182880780..182885268,4	MCF-7	breast:
11	chr2:182878350..182883617-chr2:182884641..182888824,4	MCF-7	breast:
12	chr2:182773653..182775415-chr2:182882507..182884573,2	MCF-7	breast:
13	chr2:182880158..182888359-chr2:182937576..182947086,29	MCF-7	breast:
14	chr2:182763521..182768832-chr2:182881197..182883799,4	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1153749	1.00[AMR][1000 genomes]
rs1196159	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2701676	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	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182879800-182885000	Weak transcription	Fetal Thymus	thymus
3	chr2:182880800-182884800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:182880800-182885400	Weak transcription	Stomach Mucosa	stomach
5	chr2:182882600-182883400	Enhancers	HUVEC	blood vessel
6	chr2:182882800-182883400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:182882800-182883400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:182882800-182883400	Enhancers	NHEK	skin
9	chr2:182882800-182883600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:182882800-182883600	Enhancers	NH-A	brain
11	chr2:182882800-182883600	Enhancers	Osteobl	bone
12	chr2:182883000-182883600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:182883000-182883600	Enhancers	HSMM	muscle
14	chr2:182883000-182883600	Enhancers	HSMMtube	muscle
15	chr2:182883000-182886000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:182883000-182886800	Enhancers	Hela-S3	cervix
17	chr2:182883200-182883400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:182883200-182883400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:182883200-182883600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:182883200-182883600	Enhancers	HMEC	breast

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