Variant report

Variant	rs28901600
Chromosome Location	chr2:234830576-234830577
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	2:234825998-234827518..2:234830063-234832735	GM12878	blood:

Variant related genes	Relation type
ENSG00000144481	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11562956	0.91[AMR][1000 genomes]
rs11562977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11563068	0.82[AMR][1000 genomes]
rs11563214	0.83[EUR][1000 genomes]
rs11563218	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12617866	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12620352	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1468521	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849914	0.91[AMR][1000 genomes]
rs2362291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28900703	0.81[AMR][1000 genomes]
rs28900712	0.91[AMR][1000 genomes]
rs28900713	0.91[AMR][1000 genomes]
rs28901579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28901582	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28901591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28901608	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28901610	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28901615	1.00[EUR][1000 genomes]
rs28901618	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28901629	1.00[EUR][1000 genomes]
rs28901637	1.00[EUR][1000 genomes]
rs28901868	0.83[EUR][1000 genomes]
rs28902174	0.83[EUR][1000 genomes]
rs3771334	0.91[AMR][1000 genomes]
rs3806588	0.81[AMR][1000 genomes]
rs4663342	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4663343	0.83[EUR][1000 genomes]
rs4663989	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9789366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234827600-234834000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234827800-234833600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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