Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:80133246..80135427-chr16:80136846..80139540,2	MCF-7	breast:
2	chr16:80127406..80129565-chr16:80138549..80141311,2	MCF-7	breast:
3	chr16:80138093..80140462-chr16:80142206..80144298,2	MCF-7	breast:
4	chr16:80139089..80140824-chr16:80141061..80144366,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13331319	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331402	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332529	1.00[AMR][1000 genomes]
rs13334783	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337419	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16951915	1.00[AMR][1000 genomes]
rs16952276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952468	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952535	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952580	1.00[AMR][1000 genomes]
rs28360791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28421400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60282069	1.00[AMR][1000 genomes]
rs8051437	1.00[AMR][1000 genomes]
rs9930150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936120	1.00[AMR][1000 genomes]
rs9938876	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80137200-80140200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80137400-80140200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:80137400-80140600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:80137400-80143000	Enhancers	HMEC	breast
5	chr16:80137600-80140000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:80138400-80140000	Enhancers	Fetal Stomach	stomach
8	chr16:80138600-80139400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:80138600-80139400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:80138600-80139600	Enhancers	NH-A	brain
11	chr16:80138600-80139600	Enhancers	Osteobl	bone
12	chr16:80138600-80139800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr16:80138800-80139400	Enhancers	Placenta	Placenta
14	chr16:80138800-80139600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:80138800-80139600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr16:80139200-80140000	Enhancers	NHEK	skin
17	chr16:80139200-80141800	Weak transcription	HSMM	muscle

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