Variant report

Variant	rs2591250
Chromosome Location	chr5:114732166-114732167
allele	A/T
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	GATA3	chr5:114731684-114733016	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr5:114731662-114732210	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000249026	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12523614	0.91[AFR][1000 genomes]
rs12652178	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12652193	0.95[AFR][1000 genomes]
rs12654199	1.00[YRI][hapmap]
rs12654224	0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs12658313	0.95[AFR][1000 genomes]
rs2124393	0.93[AFR][1000 genomes]
rs2124394	0.93[AFR][1000 genomes]
rs2124395	0.93[AFR][1000 genomes]
rs2166338	0.83[AFR][1000 genomes]
rs2260996	0.88[AFR][1000 genomes]
rs2260998	0.93[AFR][1000 genomes]
rs2416408	0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2416410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2591251	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs2591252	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2591253	0.88[AFR][1000 genomes]
rs2591254	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2591255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2605185	0.80[YRI][hapmap];0.88[AFR][1000 genomes]
rs2605186	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2605188	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2605189	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2605191	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2925188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2925189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2964548	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35561259	0.95[AFR][1000 genomes]
rs57327202	0.95[AFR][1000 genomes]
rs58409112	0.88[AFR][1000 genomes]
rs60523123	0.92[AFR][1000 genomes]
rs61552449	0.85[AFR][1000 genomes]
rs62372573	0.95[AFR][1000 genomes]
rs62372574	0.95[AFR][1000 genomes]
rs6865409	0.95[AFR][1000 genomes]
rs6865555	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs71588762	0.84[AFR][1000 genomes]
rs959872	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3374677	chr5:114730653-114732626	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
6	esv2481947	chr5:114730681-114732326	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
7	esv3471333	chr5:114731598-114739727	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3520590	chr5:114731610-114739722	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3471334	chr5:114731612-114739723	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3520591	chr5:114731612-114739723	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114729400-114734200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:114729600-114737000	Weak transcription	NHLF	lung
3	chr5:114730000-114737800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:114731200-114738000	Weak transcription	Lung	lung
5	chr5:114731800-114733000	Enhancers	Osteobl	bone
6	chr5:114731800-114733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:114732000-114735200	Enhancers	NHDF-Ad	bronchial

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