Variant report

Variant	rs56128793
Chromosome Location	chr12:68332893-68332894
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2904537	0.87[EUR][1000 genomes]
rs55637283	0.85[EUR][1000 genomes]
rs55639147	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55640059	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55657727	0.88[EUR][1000 genomes]
rs55763957	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55798936	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55853686	0.85[EUR][1000 genomes]
rs55976438	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56050933	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56137909	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56188054	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56268423	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57309000	0.87[EUR][1000 genomes]
rs59161212	0.87[EUR][1000 genomes]
rs60801514	0.87[EUR][1000 genomes]
rs61627136	0.85[EUR][1000 genomes]
rs74099901	0.87[EUR][1000 genomes]
rs7959936	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:68324200-68333200	Weak transcription	Fetal Heart	heart
3	chr12:68328800-68333200	Weak transcription	HSMMtube	muscle
4	chr12:68329200-68334200	Weak transcription	Stomach Mucosa	stomach
5	chr12:68332400-68334800	Weak transcription	Left Ventricle	heart
6	chr12:68332600-68334000	Enhancers	Psoas Muscle	Psoas
7	chr12:68332800-68333200	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:68332800-68333600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:68332800-68334000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:68332800-68335000	Enhancers	Brain Inferior Temporal Lobe	brain

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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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