Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr7:50547598-50547977	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1137337	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575372	0.86[AMR][1000 genomes]
rs11575383	0.91[CEU][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11575387	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs11575422	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11575434	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11575438	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575544	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs17133853	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17152020	0.92[JPT][hapmap]
rs2329368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4490786	0.92[JPT][hapmap]
rs55782136	0.91[EUR][1000 genomes]
rs56069386	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56074624	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56727653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58085392	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59239231	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61093871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62445903	0.93[EUR][1000 genomes]
rs62445905	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7791875	1.00[CEU][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50535800-50553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:50542000-50549600	Weak transcription	Stomach Mucosa	stomach
3	chr7:50543600-50595000	Weak transcription	Liver	Liver
4	chr7:50544200-50548400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:50545800-50548800	Strong transcription	Fetal Intestine Large	intestine
6	chr7:50545800-50565800	Weak transcription	HepG2	liver
7	chr7:50546000-50548800	Strong transcription	Fetal Intestine Small	intestine
8	chr7:50546600-50548800	Strong transcription	Duodenum Mucosa	Duodenum

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