Variant report

Variant	rs12112997
Chromosome Location	chr7:14811488-14811489
allele	C/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	GATA2	chr7:14811326-14811688	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000221428	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10215386	1.00[AMR][1000 genomes]
rs10227079	1.00[AMR][1000 genomes]
rs10227542	1.00[AMR][1000 genomes]
rs10230236	1.00[AMR][1000 genomes]
rs10230627	1.00[EUR][1000 genomes]
rs10233046	1.00[AMR][1000 genomes]
rs10238594	1.00[AMR][1000 genomes]
rs10250024	1.00[EUR][1000 genomes]
rs10251197	1.00[EUR][1000 genomes]
rs10251445	1.00[AMR][1000 genomes]
rs10252560	1.00[EUR][1000 genomes]
rs10254172	1.00[EUR][1000 genomes]
rs10265238	1.00[AMR][1000 genomes]
rs10269901	1.00[EUR][1000 genomes]
rs10282218	1.00[EUR][1000 genomes]
rs10499461	1.00[AMR][1000 genomes]
rs12334082	1.00[AMR][1000 genomes]
rs12334160	1.00[AMR][1000 genomes]
rs16878257	1.00[AMR][1000 genomes]
rs16878259	1.00[AMR][1000 genomes]
rs16878263	1.00[AMR][1000 genomes]
rs17168294	1.00[EUR][1000 genomes]
rs17168300	1.00[EUR][1000 genomes]
rs17168323	1.00[EUR][1000 genomes]
rs17168342	1.00[AMR][1000 genomes]
rs17168344	1.00[EUR][1000 genomes]
rs17168348	1.00[AMR][1000 genomes]
rs17168362	1.00[AMR][1000 genomes]
rs17168385	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17168392	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17168394	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17168400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17168404	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17168412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28687851	1.00[AMR][1000 genomes]
rs28715709	1.00[EUR][1000 genomes]
rs60022106	1.00[EUR][1000 genomes]
rs60043327	1.00[EUR][1000 genomes]
rs61319951	1.00[EUR][1000 genomes]
rs6948854	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950667	1.00[EUR][1000 genomes]
rs6969161	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272109	1.00[EUR][1000 genomes]
rs73272113	1.00[EUR][1000 genomes]
rs73272114	1.00[EUR][1000 genomes]
rs73272124	1.00[EUR][1000 genomes]
rs73272133	1.00[EUR][1000 genomes]
rs73272143	1.00[EUR][1000 genomes]
rs73272145	1.00[EUR][1000 genomes]
rs73272153	1.00[EUR][1000 genomes]
rs73272155	1.00[EUR][1000 genomes]
rs73272157	1.00[EUR][1000 genomes]
rs73272168	1.00[EUR][1000 genomes]
rs73287444	1.00[EUR][1000 genomes]
rs73289548	1.00[EUR][1000 genomes]
rs73289554	1.00[EUR][1000 genomes]
rs73682547	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7800794	1.00[EUR][1000 genomes]
rs7802613	1.00[AMR][1000 genomes]
rs7802922	1.00[AMR][1000 genomes]
rs7811040	1.00[EUR][1000 genomes]
rs9986816	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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887712	chr7:14717872-14829858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1020722	chr7:14792114-14871907	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14810600-14812400	Weak transcription	Brain Germinal Matrix	brain
2	chr7:14811000-14811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:14811000-14812200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:14811000-14813600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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