Variant report

Variant	rs864900
Chromosome Location	chr12:51243953-51243954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11169590	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169620	0.90[EUR][1000 genomes]
rs12311433	0.91[EUR][1000 genomes]
rs12311437	0.91[EUR][1000 genomes]
rs12312292	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317842	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125002	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579072	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59396115	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61305556	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs829127	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:51237000-51244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51237000-51244400	Weak transcription	Gastric	stomach
3	chr12:51237800-51246400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:51243000-51244400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:51243400-51244200	Weak transcription	Psoas Muscle	Psoas
6	chr12:51243400-51244400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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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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