Variant report

Variant	rs73280040
Chromosome Location	chr12:42470346-42470347
allele	A/G/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	GATA1	chr12:42470268-42471378	K562	blood:	n/a	chr12:42470950-42470960 chr12:42470589-42470598 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470620-42470641
2	GATA1	chr12:42470224-42471561	PBDE	blood:	n/a	chr12:42470950-42470960 chr12:42470589-42470598 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470620-42470641

Variant related genes	Relation type
ENSG00000222884	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11385212	1.00[AMR][1000 genomes]
rs1234113	1.00[AMR][1000 genomes]
rs1683193	1.00[AMR][1000 genomes]
rs2639125	0.85[AMR][1000 genomes]
rs2639128	1.00[AMR][1000 genomes]
rs56669009	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56856898	0.85[AMR][1000 genomes]
rs56945323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549495	1.00[AMR][1000 genomes]
rs57582332	1.00[AMR][1000 genomes]
rs58108857	0.85[AMR][1000 genomes]
rs58417163	1.00[AMR][1000 genomes]
rs59451068	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59477321	0.85[AMR][1000 genomes]
rs60327465	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60655395	1.00[AMR][1000 genomes]
rs712113	1.00[AMR][1000 genomes]
rs712117	1.00[AMR][1000 genomes]
rs712121	1.00[AMR][1000 genomes]
rs712128	1.00[AMR][1000 genomes]
rs7132315	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133783	1.00[AMR][1000 genomes]
rs7298660	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278268	1.00[AMR][1000 genomes]
rs73278270	0.85[AMR][1000 genomes]
rs73278272	1.00[AMR][1000 genomes]
rs73278295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280038	0.85[AMR][1000 genomes]
rs73280047	1.00[AMR][1000 genomes]
rs73280057	0.85[AMR][1000 genomes]
rs73280063	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280071	1.00[AMR][1000 genomes]
rs73280079	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280085	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280087	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280101	1.00[AMR][1000 genomes]
rs73281848	1.00[AMR][1000 genomes]
rs73281857	1.00[AMR][1000 genomes]
rs73281868	1.00[AMR][1000 genomes]
rs73281890	1.00[AMR][1000 genomes]
rs73281897	1.00[AMR][1000 genomes]
rs73283703	0.85[AMR][1000 genomes]
rs73283726	1.00[AMR][1000 genomes]
rs73283728	1.00[AMR][1000 genomes]
rs73283731	1.00[AMR][1000 genomes]
rs73283737	1.00[AMR][1000 genomes]
rs7954844	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957401	1.00[AMR][1000 genomes]
rs7960285	1.00[AMR][1000 genomes]
rs7964994	1.00[AMR][1000 genomes]
rs850828	1.00[AMR][1000 genomes]
rs864291	1.00[AMR][1000 genomes]
rs864298	1.00[AMR][1000 genomes]
rs9669751	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 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	chr12:42463800-42474600	Weak transcription	Left Ventricle	heart
2	chr12:42464600-42484000	Weak transcription	HSMM	muscle
3	chr12:42467400-42471200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
5	chr12:42469400-42491800	Weak transcription	Ovary	ovary
6	chr12:42470200-42471400	Enhancers	K562	blood

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