Variant report

Variant	rs12598248
Chromosome Location	chr16:70658224-70658225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11866403	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12596475	0.82[ASN][1000 genomes]
rs12598251	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12598945	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12919296	0.82[EUR][1000 genomes]
rs12919451	0.81[EUR][1000 genomes]
rs12920334	0.82[EUR][1000 genomes]
rs12920529	0.82[EUR][1000 genomes]
rs12923477	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12923630	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12923637	0.81[EUR][1000 genomes]
rs12926402	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12929463	0.82[EUR][1000 genomes]
rs12929508	0.81[EUR][1000 genomes]
rs12935541	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13329733	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16970408	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs33998678	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34811595	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34881169	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35285555	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35290416	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35437297	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35794088	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36097154	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985413	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985414	0.82[ASN][1000 genomes]
rs4985546	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985549	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985550	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985551	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985552	0.82[ASN][1000 genomes]
rs4985553	0.80[ASN][1000 genomes]
rs55872380	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57738457	0.82[EUR][1000 genomes]
rs61170208	0.80[ASN][1000 genomes]
rs68049363	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71401818	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7191249	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8061329	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14380	chr16:70650573-70660117	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70647400-70669200	Weak transcription	Right Atrium	heart
2	chr16:70647800-70664800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:70656200-70659000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:70657400-70658400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr16:70657400-70658400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:70657400-70661400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr16:70658200-70659200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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