Variant report

Variant	rs12870116
Chromosome Location	chr13:30471937-30471938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12853756	1.00[ASN][1000 genomes]
rs12873458	1.00[ASN][1000 genomes]
rs17503160	1.00[ASN][1000 genomes]
rs17587386	1.00[ASN][1000 genomes]
rs17587428	1.00[ASN][1000 genomes]
rs34501320	1.00[ASN][1000 genomes]
rs34502265	1.00[ASN][1000 genomes]
rs34924206	1.00[ASN][1000 genomes]
rs35493486	1.00[ASN][1000 genomes]
rs61947277	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66482280	1.00[ASN][1000 genomes]
rs7324741	1.00[ASN][1000 genomes]
rs7492215	1.00[ASN][1000 genomes]
rs7987380	1.00[ASN][1000 genomes]
rs9506238	1.00[ASN][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30452600-30472200	Weak transcription	Ovary	ovary
2	chr13:30463000-30476400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:30468000-30473800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:30471000-30476200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:30471200-30472000	Enhancers	Fetal Heart	heart
6	chr13:30471600-30472200	Enhancers	H1 BMP4 Derived Trophoblast 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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