Variant report

Variant	rs59886878
Chromosome Location	chr1:186418389-186418390
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	GATA1	chr1:186417946-186418467	PBDE	blood:	n/a	chr1:186418123-186418132 chr1:186418264-186418271 chr1:186418257-186418278 chr1:186418259-186418275 chr1:186418264-186418271 chr1:186418264-186418271

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186384905..186386985-chr1:186417327..186419013,2	K562	blood:

Variant related genes	Relation type
ENSG00000229739	TF binding region
PDC	TF binding region
ENSG00000157181	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10489394	0.83[AFR][1000 genomes]
rs10489395	0.83[AFR][1000 genomes]
rs10494588	0.87[AFR][1000 genomes]
rs12239322	1.00[AFR][1000 genomes]
rs13374242	0.85[AFR][1000 genomes]
rs13376114	0.86[AFR][1000 genomes]
rs16825292	0.84[AFR][1000 genomes]
rs16825329	0.87[AFR][1000 genomes]
rs16825448	0.86[AFR][1000 genomes]
rs16825457	0.83[AFR][1000 genomes]
rs1929094	0.86[AFR][1000 genomes]
rs3934201	0.83[AFR][1000 genomes]
rs41393449	0.86[AFR][1000 genomes]
rs56158125	0.87[AFR][1000 genomes]
rs57020506	0.95[AFR][1000 genomes]
rs60957652	0.86[AFR][1000 genomes]
rs6425029	0.86[AFR][1000 genomes]
rs6673816	0.86[AFR][1000 genomes]
rs6679283	0.95[AFR][1000 genomes]
rs6688055	0.83[AFR][1000 genomes]
rs6695920	0.81[AFR][1000 genomes]
rs7530502	0.87[AFR][1000 genomes]
rs7547924	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
2	chr1:186406600-186421000	Weak transcription	Left Ventricle	heart
3	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain

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