Variant report

Variant	rs34676049
Chromosome Location	chr6:28453618-28453619
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28451721..28454293-chr6:28455250..28457902,2	MCF-7	breast:
2	chr6:28452420..28454018-chr6:28686803..28689231,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13190888	0.88[EUR][1000 genomes]
rs13191038	0.93[EUR][1000 genomes]
rs13191786	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13198809	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13201681	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13207345	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13208096	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13211507	0.93[EUR][1000 genomes]
rs13213152	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13213986	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13214023	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13217619	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2232423	0.96[EUR][1000 genomes]
rs2232426	0.96[EUR][1000 genomes]
rs2232429	0.96[EUR][1000 genomes]
rs33932084	0.91[EUR][1000 genomes]
rs34218844	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34396849	0.93[EUR][1000 genomes]
rs34546986	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34661125	0.93[EUR][1000 genomes]
rs34691223	0.93[EUR][1000 genomes]
rs34871267	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34878803	0.93[EUR][1000 genomes]
rs34950484	0.93[EUR][1000 genomes]
rs35016036	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35017208	1.00[EUR][1000 genomes]
rs35030260	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35072899	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35353359	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35744819	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35883476	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36092177	0.96[EUR][1000 genomes]
rs4947336	0.87[EUR][1000 genomes]
rs55690788	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075693	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56189111	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67340775	0.94[EUR][1000 genomes]
rs67381177	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67981811	0.96[EUR][1000 genomes]
rs67998226	0.93[EUR][1000 genomes]
rs72854513	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34676049	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs34676049	AL022393.7	cis	Muscle Skeletal	GTEx
rs34676049	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs34676049	ZFP57	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28443200-28456600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:28451800-28456800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:28453600-28456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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