Variant report

Variant	rs73288580
Chromosome Location	chr8:104006887-104006888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103873743..103876435-chr8:104005600..104007711,2	MCF-7	breast:
2	chr8:104004392..104007373-chr8:104019814..104021377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1512351	0.86[EUR][1000 genomes]
rs17199777	0.89[EUR][1000 genomes]
rs17200931	0.86[EUR][1000 genomes]
rs3808549	0.86[EUR][1000 genomes]
rs3808551	0.88[EUR][1000 genomes]
rs4452771	0.80[EUR][1000 genomes]
rs55635754	0.86[EUR][1000 genomes]
rs55649874	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55844983	0.86[EUR][1000 genomes]
rs56224531	0.86[EUR][1000 genomes]
rs56370378	0.86[EUR][1000 genomes]
rs57059899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57205128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71292768	0.83[ASN][1000 genomes]
rs72667277	0.97[EUR][1000 genomes]
rs72667278	1.00[EUR][1000 genomes]
rs72667279	1.00[EUR][1000 genomes]
rs72667281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667289	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667290	1.00[EUR][1000 genomes]
rs72667292	1.00[EUR][1000 genomes]
rs72667301	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669305	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669319	0.89[EUR][1000 genomes]
rs72669327	0.89[EUR][1000 genomes]
rs72669334	0.86[EUR][1000 genomes]
rs72669337	0.83[EUR][1000 genomes]
rs72669342	0.86[EUR][1000 genomes]
rs72669349	0.86[EUR][1000 genomes]
rs72669351	0.86[EUR][1000 genomes]
rs72669354	0.83[EUR][1000 genomes]
rs72669356	0.83[EUR][1000 genomes]
rs7844885	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844974	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693082	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73288580	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103990400-104011400	Weak transcription	Placenta	Placenta
2	chr8:103993400-104012400	Weak transcription	Spleen	Spleen
3	chr8:104000000-104007000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:104001000-104007000	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:104001600-104008800	Weak transcription	Brain Substantia Nigra	brain
6	chr8:104001600-104011400	Weak transcription	Fetal Brain Male	brain
7	chr8:104003200-104008000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:104004000-104010200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:104004200-104007400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:104004600-104007200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:104005600-104007000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:104006600-104008600	Strong transcription	Primary B cells from cord blood	blood
13	chr8:104006600-104009000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:104006600-104009200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:104006800-104007000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:104006800-104007000	Enhancers	HSMM	muscle
17	chr8:104006800-104007000	Enhancers	HSMMtube	muscle
18	chr8:104006800-104007200	Enhancers	NHDF-Ad	bronchial
19	chr8:104006800-104007600	Enhancers	Fetal Muscle Leg	muscle
20	chr8:104006800-104007600	Enhancers	Ovary	ovary
21	chr8:104006800-104009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:104006800-104009200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:104006800-104012400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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