Variant report

Variant	rs2102572
Chromosome Location	chr1:220524444-220524445
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10863543	0.81[EUR][1000 genomes]
rs10863545	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118518	0.81[EUR][1000 genomes]
rs11589736	0.83[EUR][1000 genomes]
rs1511697	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1983248	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4846623	0.82[EUR][1000 genomes]
rs4846627	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs907414	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs925447	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220510800-220525600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:220511200-220526400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:220514000-220526600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:220524000-220526800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:220524400-220526600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:220524400-220526800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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