Variant report

Variant	rs2022423
Chromosome Location	chr6:46046859-46046860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:46045147..46047454-chr6:46342539..46344047,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1048079	0.83[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1076736	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1076737	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10948280	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11756160	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11758852	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12665453	0.83[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2006030	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2022422	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2143746	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2179757	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2179991	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2206967	0.88[EUR][1000 genomes]
rs2295016	0.88[EUR][1000 genomes]
rs2295017	0.83[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs2295018	0.83[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs3756801	0.83[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3891763	0.89[EUR][1000 genomes]
rs6458488	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6458489	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6458492	0.89[EUR][1000 genomes]
rs6902187	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6921870	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6933669	0.84[CEU][hapmap]
rs6940977	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6941587	0.88[EUR][1000 genomes]
rs7356841	0.83[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7356846	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7740398	0.83[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7744030	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7745824	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7758638	0.88[CEU][hapmap]
rs7760123	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9349345	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9357502	0.82[EUR][1000 genomes]
rs9369601	0.86[EUR][1000 genomes]
rs9381421	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395155	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9463184	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9472683	0.88[CEU][hapmap]
rs9472684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472688	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9472689	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9472690	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9472699	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9472705	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9472714	0.83[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes]
rs9763	0.83[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2022423	TBCC	cis	parietal	SCAN
rs2022423	ENPP5	cis	cerebellum	SCAN
rs2022423	ENPP4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46038800-46047400	Weak transcription	Psoas Muscle	Psoas
2	chr6:46044800-46047400	Active TSS	Fetal Intestine Small	intestine
3	chr6:46044800-46048400	Active TSS	Fetal Intestine Large	intestine
4	chr6:46045000-46047400	Active TSS	Duodenum Mucosa	Duodenum
5	chr6:46046800-46047200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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