Variant report

Variant	rs2189835
Chromosome Location	chr22:30878217-30878218
allele	A/C
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]
rs1001409	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008801	1.00[ASN][1000 genomes]
rs11912737	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13053262	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053759	0.81[AMR][1000 genomes]
rs13054004	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054381	0.81[AMR][1000 genomes]
rs13750	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988720	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17670707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670808	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738527	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859479	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1986969	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2023967	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412989	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2412990	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35102600	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35530794	1.00[ASN][1000 genomes]
rs35841307	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602314	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60308761	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6518693	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6518695	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7284873	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285878	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286523	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286807	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7287003	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7287135	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7287596	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7287943	0.93[EUR][1000 genomes]
rs7289277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289820	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289828	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291870	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7292573	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136225	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136992	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8137267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137718	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138759	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141108	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141286	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141318	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141428	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141671	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886615	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs886616	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs886617	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9306262	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606736	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606738	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606739	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606744	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606745	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606746	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606747	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606749	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608935	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608936	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608938	1.00[ASN][1000 genomes]
rs9608940	1.00[ASN][1000 genomes]
rs9608941	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608942	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608944	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608946	0.93[EUR][1000 genomes]
rs9608955	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608956	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9608960	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608964	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608966	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608967	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608968	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608972	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2189835	SEC14L4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30872800-30881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30874600-30894000	Weak transcription	Right Atrium	heart
3	chr22:30877200-30878400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:30878000-30881800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:30878200-30878400	Enhancers	Brain Anterior Caudate	brain
6	chr22:30878200-30881200	Weak transcription	Osteobl	bone

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