Variant report

Variant	rs2800866
Chromosome Location	chr1:222207647-222207648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11118920	0.89[EUR][1000 genomes]
rs11118930	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118931	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12031848	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12139468	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1339870	0.88[EUR][1000 genomes]
rs1339873	0.89[ASN][1000 genomes]
rs1416896	0.89[EUR][1000 genomes]
rs1470233	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2053510	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2053511	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2053512	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2378499	0.90[EUR][1000 genomes]
rs2584314	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584315	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2584316	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2584317	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2584318	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2584319	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2584320	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2584321	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2584322	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2584323	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2584324	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2584329	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2790744	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790746	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2790747	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2790748	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2800848	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2800849	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2800861	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800865	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2800867	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3014719	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56120858	0.89[EUR][1000 genomes]
rs61823931	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6604697	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6677832	0.89[EUR][1000 genomes]
rs7538392	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2800866	IARS2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222195000-222216000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222204200-222216600	Weak transcription	Aorta	Aorta
3	chr1:222205200-222208200	Weak transcription	Psoas Muscle	Psoas
4	chr1:222205600-222211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:222205800-222212600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:222206000-222208200	Weak transcription	Right Ventricle	heart
7	chr1:222206000-222210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:222206800-222208600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:222207000-222208600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:222207000-222208600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:222207000-222217200	Enhancers	Fetal Heart	heart
12	chr1:222207400-222209000	Enhancers	Fetal Brain Male	brain
13	chr1:222207400-222209000	Enhancers	Dnd41	blood

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