Variant report

Variant	rs12580440
Chromosome Location	chr12:43179198-43179199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11181704	1.00[AFR][1000 genomes]
rs11181718	1.00[AFR][1000 genomes]
rs11181723	1.00[AFR][1000 genomes]
rs11181725	1.00[AFR][1000 genomes]
rs11181727	1.00[AFR][1000 genomes]
rs11181735	1.00[AFR][1000 genomes]
rs11181736	1.00[AFR][1000 genomes]
rs11181738	1.00[AFR][1000 genomes]
rs11181740	1.00[AFR][1000 genomes]
rs11181741	1.00[AFR][1000 genomes]
rs11181742	1.00[AFR][1000 genomes]
rs11181743	1.00[AFR][1000 genomes]
rs11181785	1.00[AFR][1000 genomes]
rs11181788	1.00[AFR][1000 genomes]
rs11181790	1.00[AFR][1000 genomes]
rs11181792	1.00[AFR][1000 genomes]
rs11181793	1.00[AFR][1000 genomes]
rs11181799	1.00[AFR][1000 genomes]
rs11181800	1.00[AFR][1000 genomes]
rs11181802	1.00[AFR][1000 genomes]
rs11181803	1.00[AFR][1000 genomes]
rs12227246	1.00[AFR][1000 genomes]
rs12581647	1.00[AFR][1000 genomes]
rs12582280	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17091849	1.00[AFR][1000 genomes]
rs17091866	0.98[ASN][1000 genomes]
rs17091875	0.98[ASN][1000 genomes]
rs17091890	0.98[ASN][1000 genomes]
rs17091893	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs59894001	1.00[AFR][1000 genomes]
rs60308009	1.00[AFR][1000 genomes]
rs7295759	0.98[ASN][1000 genomes]
rs7309623	0.98[ASN][1000 genomes]
rs9634307	1.00[AFR][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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43170000-43180200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:43174200-43179400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:43174200-43180600	Weak transcription	HSMM	muscle
4	chr12:43175000-43179800	Weak transcription	Fetal Lung	lung
5	chr12:43175000-43183800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:43175400-43184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:43175600-43183400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:43177200-43180800	Weak transcription	Fetal Heart	heart
9	chr12:43177600-43182200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:43178000-43180400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:43179000-43179400	Enhancers	HUVEC	blood vessel

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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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