Variant report

Variant	rs2790746
Chromosome Location	chr1:222216000-222216001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11118920	0.87[EUR][1000 genomes]
rs11118930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118931	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12031848	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12137305	0.97[ASN][1000 genomes]
rs12139468	1.00[CEU][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs1339870	0.87[EUR][1000 genomes]
rs1416896	0.87[EUR][1000 genomes]
rs1470233	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2053510	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053511	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053512	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378499	0.89[EUR][1000 genomes]
rs2584314	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2584315	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2584316	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2584317	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2584318	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2584319	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2584320	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2584321	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2584322	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2584323	0.91[EUR][1000 genomes]
rs2584324	0.91[EUR][1000 genomes]
rs2584329	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2790744	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2790745	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2790747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790748	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800848	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2800849	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2800861	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2800865	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800866	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2800867	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3014719	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56120858	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61823931	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6604697	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6677832	0.87[EUR][1000 genomes]
rs7538392	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs996854	0.88[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
rs2790746	IARS2	cis	cerebellum	SCAN

Chromatin state (count:30 , 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	chr1:222207000-222217200	Enhancers	Fetal Heart	heart
4	chr1:222211200-222216600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:222211400-222216800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:222212800-222216600	Weak transcription	Liver	Liver
7	chr1:222214000-222216200	Weak transcription	Psoas Muscle	Psoas
8	chr1:222214000-222216600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:222214000-222216600	Weak transcription	Right Atrium	heart
10	chr1:222214000-222216800	Weak transcription	Fetal Brain Male	brain
11	chr1:222214200-222216400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:222214400-222216600	Weak transcription	Left Ventricle	heart
13	chr1:222214600-222216200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:222214600-222216200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:222214600-222216600	Weak transcription	Right Ventricle	heart
16	chr1:222214600-222216600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:222214600-222218000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:222215200-222216200	Enhancers	NHDF-Ad	bronchial
19	chr1:222215200-222216200	Enhancers	Osteobl	bone
20	chr1:222215200-222218000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:222215200-222218000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:222215200-222218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:222215200-222218400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:222215200-222219400	Enhancers	HSMMtube	muscle
25	chr1:222215200-222219600	Enhancers	HSMM	muscle
26	chr1:222215800-222216200	Enhancers	NH-A	brain
27	chr1:222215800-222217200	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:222215800-222218000	Enhancers	Fetal Stomach	stomach
29	chr1:222215800-222218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:222216000-222216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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