Variant report

Variant	rs2290751
Chromosome Location	chr4:20569259-20569260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10516357	0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs10516358	0.88[CHD][hapmap];0.89[JPT][hapmap]
rs11936468	0.92[CHD][hapmap];0.82[ASN][1000 genomes]
rs12501870	0.86[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs12506323	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12507257	0.93[TSI][hapmap]
rs13148960	0.89[EUR][1000 genomes]
rs1463463	0.89[CHB][hapmap];0.90[ASN][1000 genomes]
rs1563657	0.83[YRI][hapmap]
rs17620615	0.82[CEU][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1870260	0.89[CHB][hapmap];0.92[CHD][hapmap];0.90[ASN][1000 genomes]
rs1870261	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2168802	0.84[CHD][hapmap];0.89[JPT][hapmap]
rs2290749	0.89[CHB][hapmap];0.96[CHD][hapmap];0.90[ASN][1000 genomes]
rs2290750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34230344	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34337410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34529351	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3775833	0.93[TSI][hapmap]
rs3886678	0.91[ASN][1000 genomes]
rs504754	0.81[ASN][1000 genomes]
rs506358	0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs511804	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs540146	0.86[CEU][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs56350231	0.90[EUR][1000 genomes]
rs606524	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs61790681	0.87[EUR][1000 genomes]
rs61790682	0.87[EUR][1000 genomes]
rs61790683	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs636798	0.92[CHD][hapmap];0.81[ASN][1000 genomes]
rs664462	0.85[CEU][hapmap]
rs6813991	0.89[JPT][hapmap]
rs6827219	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6847226	0.89[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs6853061	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655615	0.87[EUR][1000 genomes]
rs7692811	0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[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	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
12	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:20567000-20574200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:20567000-20581800	Weak transcription	NHEK	skin
18	chr4:20567000-20604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:20567200-20605200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:20567200-20617000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:20567400-20572800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:20567600-20572400	Strong transcription	Fetal Lung	lung
23	chr4:20567800-20574800	Strong transcription	NHDF-Ad	bronchial
24	chr4:20568200-20569600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:20568600-20573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:20568800-20569600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:20569000-20569600	Strong transcription	Colon Smooth Muscle	Colon
28	chr4:20569200-20570000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:20569200-20571200	Strong transcription	Osteobl	bone

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