Variant report

Variant	rs57549971
Chromosome Location	chr12:44847887-44847888
allele	C/G
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:11)

rs_ID	r²[population]
rs17094610	1.00[ASN][1000 genomes]
rs17094613	1.00[ASN][1000 genomes]
rs17094631	1.00[ASN][1000 genomes]
rs17094647	1.00[ASN][1000 genomes]
rs17094740	1.00[ASN][1000 genomes]
rs17121326	0.85[ASN][1000 genomes]
rs17121761	1.00[ASN][1000 genomes]
rs56204564	1.00[ASN][1000 genomes]
rs57115451	1.00[ASN][1000 genomes]
rs74085040	1.00[ASN][1000 genomes]
rs74085082	0.84[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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44840600-44848200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:44847800-44848000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:44847800-44848000	Enhancers	hESC Derived CD56+ Ectoderm 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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