Variant report

Variant	rs13202291
Chromosome Location	chr6:27698857-27698858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27692126..27696307-chr6:27696693..27700869,4	K562	blood:
2	chr6:27697073..27699346-chr6:27703837..27706008,2	K562	blood:
3	chr6:27690338..27692656-chr6:27698623..27701642,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs13192965	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13193480	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13193542	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13194781	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13195728	0.91[EUR][1000 genomes]
rs13199649	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13199772	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13199906	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13202295	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13202775	0.85[EUR][1000 genomes]
rs13210634	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13212318	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13212651	0.87[EUR][1000 genomes]
rs13215275	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13217620	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs13218875	1.00[AFR][1000 genomes]
rs17693963	0.81[EUR][1000 genomes]
rs17695758	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17749927	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17750747	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17751184	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17763089	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs200481	0.81[EUR][1000 genomes]
rs200483	0.81[EUR][1000 genomes]
rs200485	0.81[EUR][1000 genomes]
rs200489	0.81[EUR][1000 genomes]
rs200501	0.81[EUR][1000 genomes]
rs2747054	0.81[EUR][1000 genomes]
rs34064842	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34105070	0.85[EUR][1000 genomes]
rs34194357	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34409918	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34432857	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34706883	0.91[EUR][1000 genomes]
rs34718920	0.91[EUR][1000 genomes]
rs34788973	0.84[EUR][1000 genomes]
rs35037868	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs35202262	1.00[AFR][1000 genomes]
rs35339855	1.00[AFR][1000 genomes]
rs35501037	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35715914	0.92[EUR][1000 genomes]
rs35819751	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs36116761	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs390764	0.81[EUR][1000 genomes]
rs401754	0.81[EUR][1000 genomes]
rs425335	1.00[AFR][1000 genomes]
rs45509595	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56405707	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61742093	0.84[EUR][1000 genomes]
rs66868086	0.87[EUR][1000 genomes]
rs67040724	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs67101035	0.91[EUR][1000 genomes]
rs67652222	0.91[EUR][1000 genomes]
rs71559038	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71559050	0.91[EUR][1000 genomes]
rs71559054	0.84[EUR][1000 genomes]
rs72845046	0.91[EUR][1000 genomes]
rs72845070	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72847313	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9368531	0.81[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	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	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv970372	chr6:27695204-27708579	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv981370	chr6:27696520-27708579	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13202291	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs13202291	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs13202291	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27698800-27699000	Enhancers	GM12878-XiMat	blood

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