Variant report

Variant	rs56363740
Chromosome Location	chr12:68337644-68337645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55657727	0.90[AMR][1000 genomes]
rs56005528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56188054	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs56197326	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7133527	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68333200-68337800	Enhancers	Fetal Heart	heart
2	chr12:68334400-68337800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:68334600-68339000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:68335000-68338400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:68335200-68337800	Enhancers	HSMMtube	muscle
6	chr12:68336800-68340000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:68336800-68341000	Weak transcription	Psoas Muscle	Psoas
8	chr12:68337000-68338400	Weak transcription	iPS-15b 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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