Variant report

Variant	rs7161290
Chromosome Location	chr14:72977748-72977749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr14:72976567-72977753	IMR90	lung:	n/a	n/a
2	RFX5	chr14:72977085-72978170	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
RGS6	TF binding region

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10131083	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10138138	0.82[EUR][1000 genomes]
rs10147108	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1017082	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1017083	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11158960	0.96[EUR][1000 genomes]
rs11620663	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11621407	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11621791	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11622246	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11622509	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11623039	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11623448	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11623449	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11626185	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11629448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844952	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17180712	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1859475	0.83[EUR][1000 genomes]
rs2023957	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2238171	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2238174	0.84[EUR][1000 genomes]
rs2238175	0.83[EUR][1000 genomes]
rs2238176	0.83[EUR][1000 genomes]
rs2286072	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28499014	0.84[EUR][1000 genomes]
rs28698186	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28788858	0.91[EUR][1000 genomes]
rs3784044	0.88[EUR][1000 genomes]
rs4346151	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419001	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617784	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617785	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5008274	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56989014	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57126808	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58049100	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59911600	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7144114	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144560	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7161138	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7161176	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161351	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73300706	0.83[EUR][1000 genomes]
rs7493857	0.92[EUR][1000 genomes]
rs757654	0.97[EUR][1000 genomes]
rs8008812	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8009340	0.82[EUR][1000 genomes]
rs8009343	0.89[EUR][1000 genomes]
rs8010440	0.81[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:3 , 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	chr14:72973400-72978000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72976200-72979400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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