Variant report

Variant	rs34194357
Chromosome Location	chr6:27818535-27818536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs13192965	0.83[EUR][1000 genomes]
rs13193295	0.89[EUR][1000 genomes]
rs13193480	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13193542	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13194781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13195728	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13199649	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13199772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13199906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13200214	0.82[EUR][1000 genomes]
rs13202291	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13202295	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13210634	0.83[EUR][1000 genomes]
rs13212318	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13212651	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13215275	0.83[EUR][1000 genomes]
rs13216117	0.96[EUR][1000 genomes]
rs13217620	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13218875	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs175597	0.90[EUR][1000 genomes]
rs17695758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17749927	0.83[EUR][1000 genomes]
rs17750747	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17751184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17763089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs188015	0.81[EUR][1000 genomes]
rs200481	0.86[EUR][1000 genomes]
rs200482	0.85[EUR][1000 genomes]
rs200483	0.86[EUR][1000 genomes]
rs200485	0.86[EUR][1000 genomes]
rs200489	0.86[EUR][1000 genomes]
rs200490	0.85[EUR][1000 genomes]
rs200493	0.82[EUR][1000 genomes]
rs200497	0.85[EUR][1000 genomes]
rs200501	0.86[EUR][1000 genomes]
rs200948	0.90[EUR][1000 genomes]
rs200949	0.82[EUR][1000 genomes]
rs200950	0.90[EUR][1000 genomes]
rs200952	0.90[EUR][1000 genomes]
rs200953	0.88[EUR][1000 genomes]
rs200954	0.90[EUR][1000 genomes]
rs200977	0.90[EUR][1000 genomes]
rs200981	0.88[EUR][1000 genomes]
rs200983	0.88[EUR][1000 genomes]
rs200989	0.90[EUR][1000 genomes]
rs200990	0.88[EUR][1000 genomes]
rs200992	0.83[EUR][1000 genomes]
rs200995	0.90[EUR][1000 genomes]
rs200996	0.88[EUR][1000 genomes]
rs201002	0.88[EUR][1000 genomes]
rs2747054	0.86[EUR][1000 genomes]
rs28360499	0.95[EUR][1000 genomes]
rs34064842	0.85[EUR][1000 genomes]
rs34295134	0.88[EUR][1000 genomes]
rs34409918	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34432857	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34706883	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34718920	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34788973	0.96[EUR][1000 genomes]
rs35037868	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35202262	1.00[AFR][1000 genomes]
rs35339855	1.00[AFR][1000 genomes]
rs35501037	0.89[EUR][1000 genomes]
rs35715914	0.83[EUR][1000 genomes]
rs35819751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36101351	0.96[EUR][1000 genomes]
rs36116761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs370155	0.85[EUR][1000 genomes]
rs390764	0.86[EUR][1000 genomes]
rs401754	0.86[EUR][1000 genomes]
rs425335	1.00[AFR][1000 genomes]
rs45509595	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs483143	0.88[EUR][1000 genomes]
rs493161	0.90[EUR][1000 genomes]
rs557042	0.90[EUR][1000 genomes]
rs56405707	0.83[EUR][1000 genomes]
rs61742093	0.96[EUR][1000 genomes]
rs66868086	1.00[EUR][1000 genomes]
rs67040724	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs67101035	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71537572	0.89[EUR][1000 genomes]
rs71559038	0.82[EUR][1000 genomes]
rs71559050	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71559051	0.87[AMR][1000 genomes]
rs71559054	0.96[EUR][1000 genomes]
rs72845070	0.83[EUR][1000 genomes]
rs72847313	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9368531	0.86[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	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34194357	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs34194357	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs34194357	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs34194357	AL022393.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27808000-27819000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:27808000-27822400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:27808000-27831800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:27808200-27818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:27808200-27830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:27813800-27822200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:27814000-27822200	Weak transcription	GM12878-XiMat	blood
8	chr6:27816800-27819000	Weak transcription	K562	blood

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