Variant report

Variant	rs2224260
Chromosome Location	chr20:21808259-21808260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1535203	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1540930	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2208313	0.82[ASN][1000 genomes]
rs2224367	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2328640	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424408	0.81[EUR][1000 genomes]
rs2424420	0.81[EUR][1000 genomes]
rs4815066	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6035955	0.82[ASN][1000 genomes]
rs6047638	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6047643	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6047649	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6047654	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6047657	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6082514	0.82[ASN][1000 genomes]
rs6113378	0.82[ASN][1000 genomes]
rs7263348	0.81[EUR][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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912814	chr20:21703615-21946928	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21807000-21808600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:21807000-21808600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:21807200-21808600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr20:21807400-21808600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:21807400-21809200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:21807600-21808800	Enhancers	Colon Smooth Muscle	Colon
7	chr20:21807800-21808400	Enhancers	Fetal Stomach	stomach
8	chr20:21808000-21808600	Enhancers	Rectal Smooth Muscle	rectum
9	chr20:21808200-21808400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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