Variant report

Variant	rs17403350
Chromosome Location	chr5:106652124-106652125
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	chr5:106651143..106654044-chr5:106655723..106658073,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10058308	0.89[EUR][1000 genomes]
rs10062445	0.89[EUR][1000 genomes]
rs10077806	0.89[EUR][1000 genomes]
rs10515370	1.00[ASN][1000 genomes]
rs10515372	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948860	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163748	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165897	1.00[ASN][1000 genomes]
rs13167605	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169680	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179809	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179824	0.89[EUR][1000 genomes]
rs13184636	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184643	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184806	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13186418	1.00[ASN][1000 genomes]
rs17159641	1.00[ASN][1000 genomes]
rs17159693	0.87[EUR][1000 genomes]
rs17159727	1.00[ASN][1000 genomes]
rs17159745	1.00[ASN][1000 genomes]
rs17159751	1.00[ASN][1000 genomes]
rs17343335	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17343762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400404	1.00[ASN][1000 genomes]
rs17402238	1.00[ASN][1000 genomes]
rs1895462	1.00[ASN][1000 genomes]
rs35307227	0.89[EUR][1000 genomes]
rs35709847	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35740714	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35748495	1.00[ASN][1000 genomes]
rs35775035	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55849939	1.00[ASN][1000 genomes]
rs56283997	1.00[ASN][1000 genomes]
rs56852743	0.89[EUR][1000 genomes]
rs60635486	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596736	0.89[EUR][1000 genomes]
rs66460437	1.00[ASN][1000 genomes]
rs67504033	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67878207	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6897756	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784111	1.00[ASN][1000 genomes]
rs72784113	1.00[ASN][1000 genomes]
rs765075	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701101	1.00[ASN][1000 genomes]
rs7711216	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735115	0.90[EUR][1000 genomes]
rs9327996	0.89[EUR][1000 genomes]
rs9327997	0.89[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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17403350	BAT2L2	trans	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106650400-106656000	Weak transcription	Fetal Stomach	stomach
2	chr5:106651800-106652400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:106651800-106652400	Enhancers	Adipose Nuclei	Adipose
4	chr5:106652000-106652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:106652000-106652400	Enhancers	Fetal Lung	lung

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