Variant report

Variant	rs73132730
Chromosome Location	chr12:43248163-43248164
allele	A/C
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:10)

rs_ID	r²[population]
rs11181780	0.88[EUR][1000 genomes]
rs17503905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17581893	1.00[AFR][1000 genomes]
rs4307771	0.84[EUR][1000 genomes]
rs56198345	0.93[EUR][1000 genomes]
rs73125901	0.93[EUR][1000 genomes]
rs73127803	0.93[EUR][1000 genomes]
rs73127810	0.93[EUR][1000 genomes]
rs73132724	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7965097	0.88[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv558749	chr12:43180190-43275097	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43241200-43252400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:43246800-43249000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:43247200-43248600	Enhancers	Fetal Lung	lung
4	chr12:43247400-43248600	Enhancers	Fetal Stomach	stomach
5	chr12:43248000-43248400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:43248000-43248800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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