Variant report

Variant	rs12970613
Chromosome Location	chr18:8900680-8900681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11873544	1.00[ASN][1000 genomes]
rs12954558	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12955548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12962881	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12968320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34209805	1.00[EUR][1000 genomes]
rs34446906	1.00[ASN][1000 genomes]
rs34753817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35549057	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36051372	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71362047	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7237559	1.00[EUR][1000 genomes];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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8891800-8903600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8900000-8901600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr18:8900200-8900800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr18:8900200-8901200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:8900400-8901000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:8900600-8901000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr18:8900600-8901200	Enhancers	Fetal Brain Male	brain
8	chr18:8900600-8901600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:8900600-8901600	ZNF genes & repeats	iPS DF 19.11 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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