Variant report

Variant	rs12343259
Chromosome Location	chr9:72516472-72516473
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	chr9:72513695..72515625-chr9:72515816..72518282,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1013272	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10156645	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1032413	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032414	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10511976	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11140833	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140836	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140857	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140862	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140863	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140864	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140879	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140890	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141038	0.81[AMR][1000 genomes]
rs11141039	0.81[AMR][1000 genomes]
rs11141040	0.81[AMR][1000 genomes]
rs11141043	0.81[AMR][1000 genomes]
rs11141049	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12335359	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339764	0.81[AMR][1000 genomes]
rs12340850	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12342648	0.81[AMR][1000 genomes]
rs12343759	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12344385	0.81[AMR][1000 genomes]
rs12344550	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345929	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347023	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12347970	0.81[AMR][1000 genomes]
rs12349451	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349644	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12350185	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12350231	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1493053	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17086149	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948427	0.81[AMR][1000 genomes]
rs28799079	0.81[AMR][1000 genomes]
rs4637911	0.95[AFR][1000 genomes]
rs55708059	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55833239	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56198641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56336865	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482063	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59220396	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59269830	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7027808	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044303	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709145	0.81[AMR][1000 genomes]
rs72725226	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725252	0.81[AMR][1000 genomes]
rs72725262	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72725264	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7853925	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7855138	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870671	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7872102	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7872485	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv893439	chr9:72500956-72568962	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524309	chr9:72514177-72527688	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	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	chr9:72514000-72539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72515800-72519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:72515800-72519400	Weak transcription	HMEC	breast
4	chr9:72515800-72519800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:72515800-72520200	Weak transcription	HSMM	muscle
6	chr9:72515800-72520800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:72516000-72519000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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