Variant report

Variant	rs2994551
Chromosome Location	chr1:56788627-56788628
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2994548	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2994549	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2994550	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994552	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2994553	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994554	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3005888	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3005889	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3005890	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3005894	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3005895	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3005896	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005897	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3005898	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3005899	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3005900	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005902	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005905	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005909	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3005913	0.80[AMR][1000 genomes]
rs9787000	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1015037	chr1:56784322-56814739	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56765200-56795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56768200-56791000	Weak transcription	Aorta	Aorta
3	chr1:56770000-56791200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:56770400-56792200	Weak transcription	Right Ventricle	heart
5	chr1:56780400-56793600	Weak transcription	Liver	Liver
6	chr1:56781800-56791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:56782000-56797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:56784200-56791000	Weak transcription	Ovary	ovary
9	chr1:56784200-56792200	Weak transcription	Lung	lung
10	chr1:56787000-56789800	Weak transcription	Fetal Lung	lung
11	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
12	chr1:56787200-56800600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:56787400-56791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:56787400-56793000	Weak transcription	Fetal Heart	heart
15	chr1:56788000-56788800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:56788000-56791000	Weak transcription	NHDF-Ad	bronchial
17	chr1:56788400-56791400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:56788400-56796200	Weak transcription	Psoas Muscle	Psoas

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