Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93308160..93310524-chr1:93468907..93471489,2	K562	blood:
2	chr1:93460612..93462727-chr1:93470138..93471649,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10157869	1.00[JPT][hapmap]
rs10159030	1.00[JPT][hapmap]
rs11164820	1.00[CHB][hapmap]
rs11164857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11586570	1.00[CHB][hapmap]
rs12728322	1.00[CHB][hapmap]
rs13373836	1.00[JPT][hapmap]
rs13374961	1.00[JPT][hapmap]
rs13374962	1.00[JPT][hapmap]
rs17131669	1.00[JPT][hapmap]
rs17131670	1.00[JPT][hapmap]
rs17131672	1.00[JPT][hapmap]
rs17131673	1.00[JPT][hapmap]
rs17131674	1.00[JPT][hapmap]
rs17131682	1.00[ASW][hapmap];0.91[CEU][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17381426	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1854797	1.00[CHB][hapmap]
rs2893226	1.00[CHB][hapmap]
rs34073220	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34244251	1.00[CHB][hapmap]
rs35183060	1.00[CHB][hapmap]
rs35605531	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394666	1.00[JPT][hapmap]
rs494745	1.00[CHB][hapmap]
rs6604026	1.00[CHB][hapmap]
rs71652517	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7514280	1.00[CHB][hapmap]
rs7515224	1.00[JPT][hapmap]
rs7519363	1.00[JPT][hapmap]
rs7521417	1.00[CHB][hapmap]
rs7533572	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7533577	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7539571	1.00[JPT][hapmap]
rs7552766	1.00[JPT][hapmap]
rs9324345	1.00[JPT][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10493864	SNORD21	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93467000-93474600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:93469600-93472000	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:93470000-93471200	Enhancers	Primary T cells from cord blood	blood
4	chr1:93470000-93471800	Enhancers	Primary B cells from cord blood	blood
5	chr1:93470600-93470800	Enhancers	GM12878-XiMat	blood
6	chr1:93470600-93471000	Enhancers	Primary T helper cells PMA-I stimulated	--

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