Variant report

Variant	rs8010440
Chromosome Location	chr14:72966107-72966108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10131083	0.91[EUR][1000 genomes]
rs10138138	1.00[CEU][hapmap];0.82[CHB][hapmap];0.99[EUR][1000 genomes]
rs10147108	0.91[EUR][1000 genomes]
rs1017082	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1017083	0.90[EUR][1000 genomes]
rs11158960	0.82[EUR][1000 genomes]
rs11620663	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11621407	0.91[EUR][1000 genomes]
rs11621791	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11622246	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11622509	0.87[EUR][1000 genomes]
rs11623039	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11623448	0.88[EUR][1000 genomes]
rs11623449	0.88[EUR][1000 genomes]
rs11626185	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11628539	1.00[CEU][hapmap]
rs11629448	0.81[EUR][1000 genomes]
rs11844952	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17117164	1.00[CEU][hapmap]
rs17180712	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17180754	1.00[CEU][hapmap]
rs1859475	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2023957	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2238171	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs2238174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238175	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2238176	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2286072	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs28499014	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28698186	0.91[EUR][1000 genomes]
rs3784043	1.00[CEU][hapmap]
rs3784044	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4346151	0.81[EUR][1000 genomes]
rs4419001	0.81[EUR][1000 genomes]
rs4617784	0.81[EUR][1000 genomes]
rs5008274	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs56989014	0.96[EUR][1000 genomes]
rs57126808	0.90[EUR][1000 genomes]
rs58049100	0.91[EUR][1000 genomes]
rs59911600	0.82[EUR][1000 genomes]
rs7144114	0.81[EUR][1000 genomes]
rs7144560	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7161138	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7161290	0.81[EUR][1000 genomes]
rs7161351	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs73300706	0.97[EUR][1000 genomes]
rs7493857	0.88[EUR][1000 genomes]
rs757654	0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs8008812	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs8009340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009343	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[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	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

No data

Chromatin state (count:5 , 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	chr14:72962400-72967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:72965400-72967200	Enhancers	GM12878-XiMat	blood
4	chr14:72965400-72967800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72965400-72970800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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