Variant report

Variant	rs11012716
Chromosome Location	chr10:21762267-21762268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:21761122..21762841-chr10:21776967..21778734,2	K562	blood:
2	chr10:21760699..21762516-chr10:22607604..22609933,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10047291	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10047346	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10082390	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10828243	0.82[EUR][1000 genomes]
rs11012717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594201	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11594724	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11596452	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12248483	0.82[EUR][1000 genomes]
rs12249704	0.85[EUR][1000 genomes]
rs12776687	0.81[EUR][1000 genomes]
rs16921815	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34119904	0.82[EUR][1000 genomes]
rs34449603	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58747541	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6482181	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs67206878	0.82[EUR][1000 genomes]
rs7067553	0.81[EUR][1000 genomes]
rs7070904	0.81[EUR][1000 genomes]
rs7074328	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7080252	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7098776	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7895825	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7899812	0.87[EUR][1000 genomes]
rs7912634	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7922464	0.82[EUR][1000 genomes]
rs959652	0.83[CEU][hapmap];0.83[GIH][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs9664320	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825284	chr10:21739527-21847437	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv825285	chr10:21742026-21874334	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv825286	chr10:21757784-21838890	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv825288	chr10:21759085-21831354	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11012716	GPER	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21761200-21762400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:21761600-21762800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:21762000-21762400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr10:21762000-21762600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr10:21762000-21762600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:21762000-21762600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:21762000-21762800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr10:21762000-21763200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:21762000-21763400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:21762200-21762400	Enhancers	HepG2	liver
11	chr10:21762200-21762600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:21762200-21762600	Enhancers	A549	lung
13	chr10:21762200-21763200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:21762200-21763400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr10:21762200-21763400	Enhancers	HUES6 Cell Line	embryonic stem cell

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