Variant report

Variant	rs34573979
Chromosome Location	chr6:27480526-27480527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27480372..27481904-chr6:27721139..27723255,2	K562	blood:
2	chr6:27480119..27481874-chr6:27576209..27578820,2	MCF-7	breast:
3	chr6:27474407..27478375-chr6:27478575..27482330,4	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10484399	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13191227	0.87[EUR][1000 genomes]
rs13191474	0.94[EUR][1000 genomes]
rs13192965	0.81[EUR][1000 genomes]
rs13195040	0.94[EUR][1000 genomes]
rs13195636	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13196692	0.87[EUR][1000 genomes]
rs13202775	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13207689	0.89[EUR][1000 genomes]
rs13209332	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13210634	0.81[EUR][1000 genomes]
rs13215275	0.81[EUR][1000 genomes]
rs13217620	0.81[EUR][1000 genomes]
rs13218537	0.87[EUR][1000 genomes]
rs17749927	0.81[EUR][1000 genomes]
rs28360634	0.85[EUR][1000 genomes]
rs34071253	0.85[EUR][1000 genomes]
rs34105070	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34196306	0.94[EUR][1000 genomes]
rs34332556	0.87[EUR][1000 genomes]
rs34613987	0.93[EUR][1000 genomes]
rs34864796	0.93[EUR][1000 genomes]
rs34953377	0.87[EUR][1000 genomes]
rs34965299	0.96[EUR][1000 genomes]
rs35120058	0.87[EUR][1000 genomes]
rs35715914	0.81[EUR][1000 genomes]
rs35716472	0.85[EUR][1000 genomes]
rs35848276	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35984974	0.85[EUR][1000 genomes]
rs41269265	0.94[EUR][1000 genomes]
rs56405707	0.81[EUR][1000 genomes]
rs58616630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66785117	0.96[EUR][1000 genomes]
rs66841633	0.87[EUR][1000 genomes]
rs67240003	0.93[EUR][1000 genomes]
rs67859638	0.89[EUR][1000 genomes]
rs6904596	0.93[EUR][1000 genomes]
rs6918792	0.91[EUR][1000 genomes]
rs71537559	0.81[EUR][1000 genomes]
rs72839477	0.85[EUR][1000 genomes]
rs72845070	0.81[EUR][1000 genomes]
rs7749305	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34573979	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs34573979	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs34573979	ZFP57	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27475400-27482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:27475400-27482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:27479000-27481000	Weak transcription	K562	blood
4	chr6:27480200-27482200	Weak transcription	H9 Cell Line	embryonic stem cell

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