Variant report

Variant	rs73114500
Chromosome Location	chr1:224046476-224046477
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	POLR2A	chr1:224045818-224046574	K562	blood:	n/a	n/a
2	GATA1	chr1:224046445-224047512	PBDE	blood:	n/a	n/a
3	GATA3	chr1:224046465-224046657	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224030773..224035996-chr1:224045738..224052159,10	MCF-7	breast:
2	chr1:224032237..224035602-chr1:224046110..224051630,7	MCF-7	breast:

Variant related genes	Relation type
PHBP11	TF binding region
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12038706	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12044652	0.90[AFR][1000 genomes]
rs16842157	1.00[AMR][1000 genomes]
rs16842168	1.00[AMR][1000 genomes]
rs16842198	1.00[AMR][1000 genomes]
rs28370148	1.00[AMR][1000 genomes]
rs28370168	1.00[AMR][1000 genomes]
rs28370180	1.00[AMR][1000 genomes]
rs28370183	1.00[AMR][1000 genomes]
rs56831338	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57108544	1.00[AMR][1000 genomes]
rs57153784	1.00[AMR][1000 genomes]
rs58391315	1.00[AMR][1000 genomes]
rs59173114	1.00[AMR][1000 genomes]
rs60245976	1.00[AMR][1000 genomes]
rs60956486	1.00[AMR][1000 genomes]
rs73114404	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114482	1.00[AMR][1000 genomes]
rs73114501	1.00[AFR][1000 genomes]
rs73115632	1.00[AMR][1000 genomes]
rs73116403	0.98[AFR][1000 genomes]
rs73116433	1.00[AMR][1000 genomes]
rs73116444	1.00[AMR][1000 genomes]
rs73116448	1.00[AMR][1000 genomes]
rs73127419	1.00[AMR][1000 genomes]
rs73127431	1.00[AMR][1000 genomes]
rs73127434	1.00[AMR][1000 genomes]
rs73127439	1.00[AMR][1000 genomes]
rs73128039	1.00[AMR][1000 genomes]
rs73128040	1.00[AMR][1000 genomes]
rs73128044	1.00[AMR][1000 genomes]
rs73131132	1.00[AMR][1000 genomes]
rs73131150	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131157	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131162	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131164	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224041800-224047000	Weak transcription	NHEK	skin
2	chr1:224041800-224047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:224044800-224047800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:224044800-224051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:224046000-224048600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:224046400-224046800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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