Variant report

Variant	rs1333509
Chromosome Location	chr13:39415385-39415386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11618742	0.95[AFR][1000 genomes]
rs12164864	0.83[AMR][1000 genomes]
rs12864816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12869426	0.95[AFR][1000 genomes]
rs12869876	0.95[AFR][1000 genomes]
rs12869917	0.95[AFR][1000 genomes]
rs1333506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1333507	0.86[AMR][1000 genomes]
rs1333508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35459396	0.93[AFR][1000 genomes]
rs35657252	0.93[AFR][1000 genomes]
rs36088006	0.95[AFR][1000 genomes]
rs4505188	0.89[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes]
rs4533148	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs4943607	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4943608	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4943609	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4943610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4943611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4943612	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61947983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61948017	0.95[AFR][1000 genomes]
rs61948018	0.95[AFR][1000 genomes]
rs6563638	0.85[AMR][1000 genomes]
rs6563639	0.82[AMR][1000 genomes]
rs6563641	0.83[AMR][1000 genomes]
rs66889481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71198492	0.89[AFR][1000 genomes]
rs71423186	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71423187	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71423188	0.87[AMR][1000 genomes]
rs71439788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71439789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7322839	0.81[AMR][1000 genomes]
rs7323599	0.81[AMR][1000 genomes]
rs7337847	0.81[AMR][1000 genomes]
rs9315615	0.86[AMR][1000 genomes]
rs9532285	0.84[AMR][1000 genomes]
rs9532287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9532288	0.95[AFR][1000 genomes]
rs9548466	1.00[CHB][hapmap]
rs9548467	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs9548468	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs9548469	0.89[AMR][1000 genomes]
rs9548471	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548472	0.86[AMR][1000 genomes]
rs9548473	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9548474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548475	0.82[AMR][1000 genomes]
rs9548476	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9548478	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548479	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9548480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548483	0.87[AMR][1000 genomes]
rs9548488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548489	0.95[AFR][1000 genomes]
rs9548490	0.95[AFR][1000 genomes]
rs9548492	0.89[AFR][1000 genomes]
rs9548493	0.95[AFR][1000 genomes]
rs9548494	0.95[AFR][1000 genomes]
rs9548495	0.95[AFR][1000 genomes]
rs9548496	0.95[AFR][1000 genomes]
rs9548497	0.95[AFR][1000 genomes]
rs9548498	0.86[AFR][1000 genomes]
rs9548499	0.95[AFR][1000 genomes]
rs9548500	0.88[AFR][1000 genomes]
rs9548501	0.95[AFR][1000 genomes]
rs9548502	0.95[AFR][1000 genomes]
rs9548503	0.95[AFR][1000 genomes]
rs9548504	0.95[AFR][1000 genomes]
rs9548505	0.95[AFR][1000 genomes]
rs9548510	0.81[AMR][1000 genomes]
rs9548511	0.81[AMR][1000 genomes]
rs9548512	0.81[AMR][1000 genomes]
rs9548521	1.00[CHB][hapmap]
rs9548546	1.00[CHB][hapmap]
rs9548550	1.00[CHB][hapmap]
rs9603441	0.83[AMR][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	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1333509	MAB21L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39389400-39423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:39394600-39423000	Weak transcription	Fetal Kidney	kidney
3	chr13:39414000-39420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:39414600-39422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:39414600-39425400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:39415200-39415800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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