Variant report

Variant	rs2790744
Chromosome Location	chr1:222210435-222210436
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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	0.92[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]
rs2790745	0.97[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]
rs2800866	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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

No data

Chromatin state (count:18 , 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	chr1:222205600-222211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:222205800-222212600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:222207000-222217200	Enhancers	Fetal Heart	heart
6	chr1:222208400-222212800	Weak transcription	Right Ventricle	heart
7	chr1:222208600-222213200	Weak transcription	Psoas Muscle	Psoas
8	chr1:222209000-222212800	Weak transcription	Fetal Brain Male	brain
9	chr1:222210200-222211200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:222210400-222210600	Enhancers	Right Atrium	heart
11	chr1:222210400-222210800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:222210400-222210800	Enhancers	Left Ventricle	heart
13	chr1:222210400-222211000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:222210400-222211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:222210400-222211200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:222210400-222211400	Enhancers	Osteobl	bone
17	chr1:222210400-222211800	Enhancers	HSMMtube	muscle
18	chr1:222210400-222212800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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