Variant report

Variant	rs4048554
Chromosome Location	chr14:70762020-70762021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10083409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130596	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10133919	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134376	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10139233	0.92[EUR][1000 genomes]
rs10140161	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140263	0.92[EUR][1000 genomes]
rs10140916	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140938	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10141034	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10142875	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10146506	0.92[EUR][1000 genomes]
rs10146573	0.92[EUR][1000 genomes]
rs10146684	0.92[EUR][1000 genomes]
rs10148810	0.92[EUR][1000 genomes]
rs10149492	0.80[EUR][1000 genomes]
rs10149724	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10149895	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10150618	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10873228	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873232	0.88[EUR][1000 genomes]
rs11158851	0.94[ASN][1000 genomes]
rs11158856	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11620731	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11624085	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11627279	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12164868	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12431557	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12433437	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12433778	0.89[ASN][1000 genomes]
rs12588332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12886764	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12889915	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17475866	0.89[EUR][1000 genomes]
rs17476211	0.88[EUR][1000 genomes]
rs2275297	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2275298	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2332283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332366	0.90[EUR][1000 genomes]
rs2332367	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2332368	0.92[EUR][1000 genomes]
rs2332369	0.92[EUR][1000 genomes]
rs2332370	0.89[EUR][1000 genomes]
rs2332371	0.92[EUR][1000 genomes]
rs2332374	0.92[EUR][1000 genomes]
rs2332375	0.92[EUR][1000 genomes]
rs2332419	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2332420	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2877656	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2877660	0.92[EUR][1000 genomes]
rs35050325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784155	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4600398	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899344	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899345	0.89[EUR][1000 genomes]
rs61977477	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6420899	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573948	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573950	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573951	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573952	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573954	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573956	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573957	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573958	0.92[EUR][1000 genomes]
rs6573959	0.92[EUR][1000 genomes]
rs6573960	0.92[EUR][1000 genomes]
rs7145450	0.92[EUR][1000 genomes]
rs7146414	0.92[EUR][1000 genomes]
rs7146493	0.92[EUR][1000 genomes]
rs7146553	0.92[EUR][1000 genomes]
rs7147906	0.92[EUR][1000 genomes]
rs7148114	0.92[EUR][1000 genomes]
rs7149261	0.92[EUR][1000 genomes]
rs7150558	0.92[EUR][1000 genomes]
rs7152584	0.92[EUR][1000 genomes]
rs7152945	0.84[EUR][1000 genomes]
rs7154657	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155162	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155332	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155564	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155763	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155967	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7157399	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7157430	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7158117	0.92[EUR][1000 genomes]
rs7158315	0.92[EUR][1000 genomes]
rs7159039	0.91[EUR][1000 genomes]
rs7159747	0.92[EUR][1000 genomes]
rs8009793	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8011014	0.83[ASN][1000 genomes]
rs8013862	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8017274	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8021610	0.92[EUR][1000 genomes]
rs8022128	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022288	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022315	0.92[EUR][1000 genomes]
rs9323535	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323537	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9788426	0.86[EUR][1000 genomes]
rs9788537	0.92[EUR][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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr14:70758600-70765600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70759200-70762400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:70759800-70762400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:70759800-70762600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:70759800-70768400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:70761200-70766800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:70761200-70767600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:70761400-70765600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:70761400-70765600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:70762000-70768600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:70762000-70768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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