Variant report

Variant	rs2090977
Chromosome Location	chr1:175777601-175777602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175773915..175775509-chr1:175777011..175778616,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10913079	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12023065	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12040251	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12142588	0.80[EUR][1000 genomes]
rs1340998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1359585	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1359586	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1409142	0.80[EUR][1000 genomes]
rs1575824	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1575825	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1750293	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1925947	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2209558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2222419	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34010246	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs485526	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs515007	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs566433	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6425362	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6656072	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6667697	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6667913	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7535559	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7537684	0.81[AMR][1000 genomes]
rs7537751	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7544599	0.80[EUR][1000 genomes]
rs7544686	0.80[EUR][1000 genomes]
rs7547063	0.81[EUR][1000 genomes]
rs860895	0.85[EUR][1000 genomes]
rs942958	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs990707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175773600-175779000	Weak transcription	Pancreas	Pancrea
2	chr1:175774000-175778200	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:175777000-175778800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:175777200-175777800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:175777200-175777800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:175777600-175777800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:175777600-175778200	Enhancers	Fetal Muscle Leg	muscle
8	chr1:175777600-175779200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:175777600-175779200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:175777600-175779600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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