Variant report

Variant	rs7565510
Chromosome Location	chr2:99494833-99494834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99492447..99494949-chr2:99495015..99496598,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10169003	0.87[AFR][1000 genomes]
rs10175560	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10192266	0.81[EUR][1000 genomes]
rs11123756	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887536	0.83[AFR][1000 genomes]
rs11900176	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11900524	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12467504	0.84[EUR][1000 genomes]
rs12478574	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12712033	0.85[EUR][1000 genomes]
rs12712034	0.92[EUR][1000 genomes]
rs12712037	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12712039	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12712040	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12712042	0.82[EUR][1000 genomes]
rs12990579	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13004923	0.89[AFR][1000 genomes]
rs13005124	0.81[EUR][1000 genomes]
rs13005148	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13006398	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13024838	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1581249	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758170	0.92[EUR][1000 genomes]
rs1878589	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1949424	0.91[EUR][1000 genomes]
rs1962029	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4311103	0.80[EUR][1000 genomes]
rs4499468	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4553869	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850890	0.82[EUR][1000 genomes]
rs4851174	0.81[EUR][1000 genomes]
rs4851175	0.81[EUR][1000 genomes]
rs4851176	0.82[EUR][1000 genomes]
rs6542841	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542845	0.81[EUR][1000 genomes]
rs6704682	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724477	0.81[EUR][1000 genomes]
rs6739097	0.82[EUR][1000 genomes]
rs6741166	0.92[EUR][1000 genomes]
rs6742047	0.82[EUR][1000 genomes]
rs6752025	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6755640	0.80[EUR][1000 genomes]
rs6757098	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6760065	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7423519	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7565614	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7565736	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7565819	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7588441	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7590596	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593332	0.91[EUR][1000 genomes]
rs883773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885115	0.80[EUR][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99485600-99499800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:99487600-99499400	Weak transcription	Gastric	stomach
3	chr2:99488200-99497200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:99490200-99497200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:99491000-99496800	Weak transcription	Esophagus	oesophagus
6	chr2:99492000-99500400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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