Variant report

Variant	rs72667268
Chromosome Location	chr8:103980420-103980421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103874330..103878583-chr8:103978201..103983603,5	MCF-7	breast:
2	chr8:103874838..103876433-chr8:103978031..103981018,2	MCF-7	breast:
3	chr8:103979381..103981672-chr8:103986062..103989018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16869913	0.96[ASN][1000 genomes]
rs1806640	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1913026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892492	0.93[ASN][1000 genomes]
rs4452771	0.85[ASN][1000 genomes]
rs62525269	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6468852	0.96[ASN][1000 genomes]
rs68090954	0.93[ASN][1000 genomes]
rs72667266	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667270	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817690	0.96[ASN][1000 genomes]
rs7827655	0.96[ASN][1000 genomes]
rs7831710	0.93[ASN][1000 genomes]
rs7840373	0.96[ASN][1000 genomes]
rs7846015	0.96[ASN][1000 genomes]
rs884397	0.93[ASN][1000 genomes]
rs884398	0.93[ASN][1000 genomes]
rs9693082	0.85[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
rs72667268	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103974400-103980800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:103974400-103989200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103974400-103989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:103974800-103982200	Weak transcription	GM12878-XiMat	blood
5	chr8:103976200-103981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:103977000-103989200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:103977200-103985200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:103977800-103980600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:103977800-103981400	Enhancers	Fetal Lung	lung
10	chr8:103978600-103980600	Weak transcription	Liver	Liver
11	chr8:103978600-103980800	Enhancers	Ovary	ovary
12	chr8:103979000-103982800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:103979400-103980800	Enhancers	Fetal Stomach	stomach
14	chr8:103979600-103981400	Enhancers	Brain Anterior Caudate	brain
15	chr8:103979600-103982400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:103979800-103981200	Enhancers	Fetal Muscle Leg	muscle
17	chr8:103980200-103981800	Weak transcription	Pancreas	Pancrea
18	chr8:103980200-103982000	Enhancers	Brain Hippocampus Middle	brain
19	chr8:103980400-103981200	Enhancers	Adipose Nuclei	Adipose
20	chr8:103980400-103981200	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:103980400-103981200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:103980400-103981200	Enhancers	Brain Substantia Nigra	brain

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