Variant report

Variant	rs12479757
Chromosome Location	chr20:22593194-22593195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1146365	0.97[ASN][1000 genomes]
rs1203920	1.00[ASN][1000 genomes]
rs1203927	0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs1203935	0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs1203950	0.97[ASN][1000 genomes]
rs1337919	0.82[GIH][hapmap]
rs2224316	0.85[ASN][1000 genomes]
rs2424444	0.85[ASN][1000 genomes]
rs6082765	0.85[ASN][1000 genomes]
rs6137712	0.83[ASN][1000 genomes]
rs747911	0.85[ASN][1000 genomes]
rs754855	0.85[ASN][1000 genomes]
rs910956	0.85[ASN][1000 genomes]
rs910957	0.83[ASN][1000 genomes]
rs910960	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22591200-22594400	Enhancers	Stomach Mucosa	stomach
2	chr20:22592800-22593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22592800-22595000	Weak transcription	Gastric	stomach
4	chr20:22592800-22597200	Weak transcription	HUES48 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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