Variant report

Variant	rs2239233
Chromosome Location	chr14:72814124-72814125
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72806003..72809528-chr14:72813549..72815955,3	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10138180	0.91[EUR][1000 genomes]
rs1072167	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1356843	0.82[EUR][1000 genomes]
rs1520331	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1520332	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1812041	0.82[EUR][1000 genomes]
rs1996662	0.84[EUR][1000 genomes]
rs2079504	0.80[EUR][1000 genomes]
rs2079505	0.80[EUR][1000 genomes]
rs2090737	0.82[EUR][1000 genomes]
rs2108361	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2108362	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2238199	0.86[EUR][1000 genomes]
rs2239224	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2239225	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2239231	0.95[EUR][1000 genomes]
rs2239232	0.82[EUR][1000 genomes]
rs2239234	0.82[EUR][1000 genomes]
rs2239238	0.80[EUR][1000 genomes]
rs2239239	0.80[EUR][1000 genomes]
rs2239243	0.80[EUR][1000 genomes]
rs2239248	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2239249	0.85[EUR][1000 genomes]
rs2247090	0.82[EUR][1000 genomes]
rs2283390	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2332829	0.92[EUR][1000 genomes]
rs2332831	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2529460	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2529461	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2529466	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2529470	0.82[EUR][1000 genomes]
rs2529471	0.82[EUR][1000 genomes]
rs2681721	0.81[EUR][1000 genomes]
rs2681727	0.82[EUR][1000 genomes]
rs2681728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2681731	0.82[EUR][1000 genomes]
rs2681734	0.82[EUR][1000 genomes]
rs2681741	0.82[EUR][1000 genomes]
rs2681742	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2681743	0.82[EUR][1000 genomes]
rs2681744	0.82[EUR][1000 genomes]
rs2681745	0.81[EUR][1000 genomes]
rs2681754	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2681765	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2681768	0.80[EUR][1000 genomes]
rs2681769	0.80[EUR][1000 genomes]
rs2681771	0.80[EUR][1000 genomes]
rs4903013	0.89[EUR][1000 genomes]
rs6574067	0.89[EUR][1000 genomes]
rs6574068	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6574070	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6574071	0.89[EUR][1000 genomes]
rs7146606	0.89[EUR][1000 genomes]
rs7149872	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8003559	0.80[EUR][1000 genomes]
rs8003591	0.80[EUR][1000 genomes]
rs8019358	0.80[EUR][1000 genomes]
rs8022289	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8022859	0.80[EUR][1000 genomes]
rs8022956	0.80[EUR][1000 genomes]
rs847326	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs847327	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs847332	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs847333	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs847347	0.85[EUR][1000 genomes]
rs847351	0.82[EUR][1000 genomes]
rs847352	0.82[EUR][1000 genomes]
rs847353	0.81[EUR][1000 genomes]
rs847354	0.80[EUR][1000 genomes]
rs886826	0.82[EUR][1000 genomes]
rs929413	0.82[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv2757573	chr14:72802736-72819684	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759995	chr14:72802736-72819684	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72810200-72814800	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72812600-72814200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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