Variant report

Variant	rs2972864
Chromosome Location	chr5:75652616-75652617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs192196	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455429	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs246784	0.84[EUR][1000 genomes]
rs246785	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246789	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913245	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972866	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372733	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405030	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235697	0.85[EUR][1000 genomes]
rs4703706	0.81[EUR][1000 genomes]
rs4704307	0.82[EUR][1000 genomes];1.00[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr5:75649800-75654000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:75649800-75662600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:75651200-75653800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:75651800-75653000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:75651800-75654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:75652600-75653000	Enhancers	HUES6 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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