Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:173752004-173755320	SK-N-SH	brain:	n/a	chr2:173752966-173752980 chr2:173755286-173755295
2	GATA2	chr2:173753522-173753780	SH-SY5Y	brain:	n/a	n/a
3	NFIC	chr2:173753373-173753900	SK-N-SH	brain:	n/a	n/a
4	EP300	chr2:173753431-173753817	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr2:173753416-173753850	SK-N-SH_RA	brain:	n/a	n/a
6	GATA3	chr2:173753493-173753904	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173752920..173755740-chr2:173756262..173759255,3	K562	blood:

Variant related genes	Relation type
RAPGEF4	TF binding region
ENSG00000232292	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs3754760	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754761	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754764	0.81[ASN][1000 genomes]
rs3769265	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769268	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769274	0.87[ASN][1000 genomes]
rs3769278	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769280	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769281	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769286	0.81[ASN][1000 genomes]
rs3769291	0.87[EUR][1000 genomes]
rs3769294	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55759167	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55923901	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56884890	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57440334	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59080171	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73977720	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73977722	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73977726	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73977727	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73977729	1.00[EUR][1000 genomes];0.88[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173742600-173755000	Weak transcription	Left Ventricle	heart
2	chr2:173743000-173756400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:173750600-173754600	Weak transcription	Fetal Stomach	stomach
4	chr2:173750800-173753800	Weak transcription	Brain Anterior Caudate	brain
5	chr2:173750800-173754600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:173750800-173756200	Weak transcription	Lung	lung
7	chr2:173752200-173756400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:173753200-173754200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:173753200-173755600	Enhancers	HSMMtube	muscle
10	chr2:173753200-173757600	Enhancers	Fetal Heart	heart
11	chr2:173753400-173754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:173753400-173754400	Enhancers	Brain Germinal Matrix	brain
13	chr2:173753600-173753800	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:173753600-173753800	Enhancers	Right Atrium	heart
15	chr2:173753600-173754400	Enhancers	Brain Angular Gyrus	brain
16	chr2:173753600-173754800	Enhancers	Fetal Lung	lung

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