Variant report

Variant	rs62525269
Chromosome Location	chr8:103976027-103976028
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1806640	0.80[EUR][1000 genomes]
rs1913026	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72667266	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72667268	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72667270	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72667272	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72667277	1.00[AFR][1000 genomes]
rs72667278	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72667279	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72667289	1.00[AFR][1000 genomes]
rs72667290	1.00[AFR][1000 genomes]
rs72667292	1.00[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
rs62525269	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103974000-103978000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:103974200-103977600	Weak transcription	Adipose Nuclei	Adipose
3	chr8:103974200-103977800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:103974200-103977800	Weak transcription	Brain Anterior Caudate	brain
5	chr8:103974200-103979800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:103974400-103976200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:103974400-103976400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:103974400-103977800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:103974400-103979400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:103974400-103980400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:103974400-103980800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:103974400-103989200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:103974400-103989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:103974800-103976200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:103974800-103978600	Weak transcription	Right Atrium	heart
16	chr8:103974800-103982200	Weak transcription	GM12878-XiMat	blood
17	chr8:103975000-103980400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:103975800-103976200	Enhancers	Fetal Thymus	thymus
19	chr8:103976000-103976400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:103976000-103976400	Enhancers	Fetal Stomach	stomach
21	chr8:103976000-103976400	Enhancers	Ovary	ovary
22	chr8:103976000-103976400	Enhancers	Pancreas	Pancrea
23	chr8:103976000-103976800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:103976000-103977000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:103976000-103977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:103976000-103978200	Enhancers	Placenta	Placenta

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