Variant report

Variant	rs12494613
Chromosome Location	chr3:28721193-28721194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1381392	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17651683	0.91[ASN][1000 genomes]
rs17651822	0.94[ASN][1000 genomes]
rs17651972	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17652437	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59085702	0.91[ASN][1000 genomes]
rs62242526	0.93[ASN][1000 genomes]
rs62242527	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62242528	0.93[ASN][1000 genomes]
rs62242529	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62242532	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6762880	0.93[ASN][1000 genomes]
rs6776352	0.93[ASN][1000 genomes]
rs7641512	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1015015	chr3:28461972-28728494	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv590010	chr3:28469830-28727214	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1001920	chr3:28711075-28788920	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28709800-28723000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:28710000-28721200	Weak transcription	Psoas Muscle	Psoas
3	chr3:28712400-28721400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:28716400-28721200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:28716400-28721600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:28719400-28721200	Weak transcription	Spleen	Spleen
7	chr3:28719600-28722800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:28720400-28722000	Weak transcription	Fetal Lung	lung
9	chr3:28721000-28721400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:28721000-28721400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:28721000-28721600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:28721000-28721600	Enhancers	Lung	lung
13	chr3:28721000-28721800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:28721000-28722200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:28721000-28722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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