Variant report

Variant	rs11621791
Chromosome Location	chr14:72970962-72970963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72969545..72972507-chr14:72983434..72985736,2	K562	blood:
2	chr14:72963618..72966016-chr14:72968818..72970978,2	K562	blood:
3	chr14:72970815..72972507-chr14:72982309..72984934,2	K562	blood:
4	chr14:72970459..72972263-chr14:72988772..72991077,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10131083	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10138138	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10147108	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1017082	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1017083	0.99[EUR][1000 genomes]
rs11158960	0.86[EUR][1000 genomes]
rs11620663	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11621407	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11622246	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622509	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11623039	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623448	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11623449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11626185	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628539	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11629448	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11844952	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117164	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs17180712	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17180754	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs1859475	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2023957	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2238171	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2238174	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2238175	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2238176	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2286072	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28499014	0.95[EUR][1000 genomes]
rs28698186	1.00[EUR][1000 genomes]
rs28788858	0.81[EUR][1000 genomes]
rs3784043	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3784044	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4346151	0.89[EUR][1000 genomes]
rs4419001	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4617784	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4617785	0.88[EUR][1000 genomes]
rs5008274	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56989014	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57126808	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58049100	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59911600	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7144114	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7144560	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7161138	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7161176	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7161290	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7161351	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs73300706	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7493857	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs757654	0.87[EUR][1000 genomes]
rs8008812	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8009340	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8009343	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs8010440	1.00[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 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	chr14:72956600-72980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:72968200-72973400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72970400-72971000	Enhancers	NHEK	skin
4	chr14:72970400-72971200	Enhancers	HMEC	breast
5	chr14:72970400-72971400	Enhancers	HUVEC	blood vessel
6	chr14:72970800-72973400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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