Variant report

Variant	rs72667279
Chromosome Location	chr8:103997023-103997024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103876107..103878038-chr8:103994980..103997604,2	MCF-7	breast:
2	chr8:103989692..103992041-chr8:103996933..103998764,2	MCF-7	breast:
3	chr8:103996495..103999134-chr8:104007444..104009301,2	MCF-7	breast:
4	chr8:103993356..103995449-chr8:103995905..103998523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254281	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1512351	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17199777	0.89[EUR][1000 genomes]
rs17200931	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3808549	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3808551	0.88[EUR][1000 genomes]
rs4452771	0.80[EUR][1000 genomes]
rs55635754	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55649874	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55844983	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56224531	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56370378	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57059899	1.00[EUR][1000 genomes]
rs57205128	1.00[EUR][1000 genomes]
rs62525269	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72667270	1.00[AFR][1000 genomes]
rs72667272	1.00[AFR][1000 genomes]
rs72667277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72667278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667281	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72667282	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72667289	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72667290	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72667292	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667301	0.96[EUR][1000 genomes]
rs72669305	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72669319	0.89[EUR][1000 genomes]
rs72669327	0.89[EUR][1000 genomes]
rs72669334	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72669337	0.83[EUR][1000 genomes]
rs72669342	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72669349	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72669351	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72669354	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72669356	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73288580	1.00[EUR][1000 genomes]
rs7844885	0.90[EUR][1000 genomes]
rs7844974	0.93[EUR][1000 genomes]
rs9693082	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3479710	chr8:103993376-103998574	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3424698	chr8:103993626-103997924	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv824699	chr8:103993689-103998885	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3366496	chr8:103994001-103997724	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3479711	chr8:103994325-103997079	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv611831	chr8:103995624-104002664	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72667279	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:10 , 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	chr8:103994800-103999200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:103995800-103999400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:103996000-104001400	Weak transcription	Primary B cells from cord blood	blood
6	chr8:103996400-104001400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:103996400-104001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:103996400-104003200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:103996400-104003200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:103997000-103997600	Enhancers	HMEC	breast

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