Variant report

Variant	rs4523183
Chromosome Location	chr7:102798993-102798994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102787455..102790640-chr7:102797727..102800221,5	K562	blood:
2	chr7:35082428..35085221-chr7:102798030..102799593,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161048	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11760826	0.87[AFR][1000 genomes]
rs13224269	1.00[ASN][1000 genomes]
rs13229230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136078	1.00[ASN][1000 genomes]
rs17136079	0.97[ASN][1000 genomes]
rs17606134	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861731	1.00[ASN][1000 genomes]
rs1861732	0.82[AFR][1000 genomes]
rs1968200	1.00[ASN][1000 genomes]
rs1968201	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968203	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3987913	0.97[ASN][1000 genomes]
rs3987937	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266582	0.97[ASN][1000 genomes]
rs4336542	0.97[ASN][1000 genomes]
rs4360229	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727563	0.97[ASN][1000 genomes]
rs4729885	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729886	1.00[ASN][1000 genomes]
rs4729887	0.97[ASN][1000 genomes]
rs4729889	0.97[ASN][1000 genomes]
rs4729890	0.97[ASN][1000 genomes]
rs4729891	0.97[ASN][1000 genomes]
rs5025411	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56711496	1.00[ASN][1000 genomes]
rs57125388	1.00[ASN][1000 genomes]
rs58962103	1.00[ASN][1000 genomes]
rs61581136	1.00[ASN][1000 genomes]
rs61591042	1.00[ASN][1000 genomes]
rs62480085	0.97[ASN][1000 genomes]
rs62480090	1.00[ASN][1000 genomes]
rs62480132	0.97[ASN][1000 genomes]
rs62480133	0.97[ASN][1000 genomes]
rs62480134	0.97[ASN][1000 genomes]
rs62481562	0.85[ASN][1000 genomes]
rs62481564	1.00[ASN][1000 genomes]
rs62481612	1.00[ASN][1000 genomes]
rs62481613	1.00[ASN][1000 genomes]
rs62481614	0.94[ASN][1000 genomes]
rs62481615	0.85[ASN][1000 genomes]
rs62481648	1.00[ASN][1000 genomes]
rs62481654	0.85[ASN][1000 genomes]
rs62481655	0.94[ASN][1000 genomes]
rs62484774	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62484781	1.00[ASN][1000 genomes]
rs62484782	1.00[ASN][1000 genomes]
rs62484783	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484784	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804020	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv966873	chr7:102798505-102805358	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3403436	chr7:102798516-102803314	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4523183	RP11-401L13.5	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102790200-102803200	Weak transcription	Gastric	stomach
2	chr7:102794800-102803200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:102798600-102800000	Enhancers	K562	blood
4	chr7:102798800-102800000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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