Variant report

Variant	rs13191038
Chromosome Location	chr6:28482917-28482918
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	chr6:28479083..28483084-chr6:28485098..28487603,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs13190888	0.81[EUR][1000 genomes]
rs13191786	0.85[EUR][1000 genomes]
rs13194504	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13198809	0.93[EUR][1000 genomes]
rs13201681	0.93[EUR][1000 genomes]
rs13207345	0.85[EUR][1000 genomes]
rs13211507	0.85[EUR][1000 genomes]
rs13213152	0.93[EUR][1000 genomes]
rs13213986	0.89[EUR][1000 genomes]
rs13214023	0.93[EUR][1000 genomes]
rs13217472	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13217619	0.82[EUR][1000 genomes]
rs2232423	0.89[EUR][1000 genomes]
rs2232426	0.89[EUR][1000 genomes]
rs2232429	0.89[EUR][1000 genomes]
rs33932084	0.84[EUR][1000 genomes]
rs34218844	0.85[EUR][1000 genomes]
rs34546986	0.89[EUR][1000 genomes]
rs34661125	0.85[EUR][1000 genomes]
rs34676049	0.93[EUR][1000 genomes]
rs34691223	0.85[EUR][1000 genomes]
rs34724414	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34871267	0.89[EUR][1000 genomes]
rs34950484	0.85[EUR][1000 genomes]
rs35016036	0.89[EUR][1000 genomes]
rs35017208	0.93[EUR][1000 genomes]
rs35030260	0.87[EUR][1000 genomes]
rs35044849	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35072899	0.85[EUR][1000 genomes]
rs35243068	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35353359	0.93[EUR][1000 genomes]
rs35744819	0.93[EUR][1000 genomes]
rs35883476	0.89[EUR][1000 genomes]
rs36092177	0.89[EUR][1000 genomes]
rs4947336	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55690788	0.93[EUR][1000 genomes]
rs56075693	0.85[EUR][1000 genomes]
rs56189111	0.85[EUR][1000 genomes]
rs67340775	0.87[EUR][1000 genomes]
rs67381177	0.93[EUR][1000 genomes]
rs67981811	0.89[EUR][1000 genomes]
rs72854513	0.85[EUR][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	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
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13191038	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs13191038	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs13191038	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28480000-28483000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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