Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103984545..103986132-chr8:103993005..103995689,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16869913	0.93[ASN][1000 genomes]
rs1806640	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1913026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2892492	0.96[ASN][1000 genomes]
rs4452771	0.88[ASN][1000 genomes]
rs62525269	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6468852	0.93[ASN][1000 genomes]
rs68090954	0.96[ASN][1000 genomes]
rs72667266	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667277	1.00[AFR][1000 genomes]
rs72667278	1.00[AFR][1000 genomes]
rs72667279	1.00[AFR][1000 genomes]
rs72667289	1.00[AFR][1000 genomes]
rs72667290	1.00[AFR][1000 genomes]
rs7817690	0.93[ASN][1000 genomes]
rs7827655	0.93[ASN][1000 genomes]
rs7831710	0.96[ASN][1000 genomes]
rs7840373	0.93[ASN][1000 genomes]
rs7846015	1.00[ASN][1000 genomes]
rs884397	0.96[ASN][1000 genomes]
rs884398	0.96[ASN][1000 genomes]
rs9693082	0.88[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1803798	chr8:103974458-103987922	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72667272	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103974400-103989200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:103974400-103989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103977000-103989200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:103981200-103992600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:103982000-103989600	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:103982400-103986200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:103983800-103989200	Weak transcription	Pancreas	Pancrea
8	chr8:103985200-103986000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:103985400-103986000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:103985600-103986000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:103985800-103989000	Weak transcription	Primary B cells from cord blood	blood
12	chr8:103985800-103989200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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