Variant report

Variant	rs1913026
Chromosome Location	chr8:103979059-103979060
allele	A/G
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	chr8:103977894..103979426-chr8:103982268..103984695,2	MCF-7	breast:
3	chr8:103874838..103876433-chr8:103978031..103981018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16869913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1806640	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2892492	0.93[ASN][1000 genomes]
rs4452771	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs62525269	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6468852	1.00[CHB][hapmap];1.00[JPT][hapmap];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]
rs72667268	1.00[AMR][1000 genomes];1.00[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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7827655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7831710	0.93[ASN][1000 genomes]
rs7840373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7846015	0.96[ASN][1000 genomes]
rs884397	0.93[ASN][1000 genomes]
rs884398	0.93[ASN][1000 genomes]
rs9693082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv465752	chr8:103953990-103979714	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv611823	chr8:103953990-103979714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
rs1913026	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103974200-103979800	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:103974400-103979400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:103974400-103980400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:103974400-103980800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:103974400-103989200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:103974400-103989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:103974800-103982200	Weak transcription	GM12878-XiMat	blood
8	chr8:103975000-103980400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:103976200-103981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:103976400-103979400	Weak transcription	Fetal Stomach	stomach
11	chr8:103977000-103989200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:103977200-103985200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:103977800-103980600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:103977800-103981400	Enhancers	Fetal Lung	lung
15	chr8:103978200-103979600	Weak transcription	Brain Anterior Caudate	brain
16	chr8:103978200-103980000	Weak transcription	Placenta	Placenta
17	chr8:103978600-103979200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:103978600-103979400	Weak transcription	Pancreas	Pancrea
19	chr8:103978600-103980600	Weak transcription	Liver	Liver
20	chr8:103978600-103980800	Enhancers	Ovary	ovary
21	chr8:103978800-103980400	Weak transcription	Adipose Nuclei	Adipose
22	chr8:103979000-103979200	Weak transcription	Right Atrium	heart
23	chr8:103979000-103979400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:103979000-103982800	Weak transcription	Monocytes-CD14+_RO01746	blood

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