Variant report

Variant	rs73252268
Chromosome Location	chr4:21583621-21583622
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	SP1	chr4:21583549-21583781	HepG2	liver:	n/a	n/a
2	UBTF	chr4:21583518-21583838	K562	blood:	n/a	n/a
3	ZBTB33	chr4:21583587-21583778	K562	blood:	n/a	n/a
4	JUND	chr4:21583575-21583787	A549	lung:	n/a	n/a
5	E2F4	chr4:21583518-21583741	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF3	chr4:21583596-21583731	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:21583556-21583847	SK-N-MC	brain:	n/a	n/a
8	CTCF	chr4:21583526-21583759	K562	blood:	n/a	n/a
9	IRF1	chr4:21583518-21583886	K562	blood:	n/a	n/a
10	GATA3	chr4:21583519-21583886	SH-SY5Y	brain:	n/a	n/a
11	POU2F2	chr4:21583565-21583764	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:21583580-21583750	HepG2	liver:	n/a	n/a
13	REST	chr4:21583495-21583778	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250092	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10011740	1.00[ASN][1000 genomes]
rs1394135	1.00[ASN][1000 genomes]
rs1394136	1.00[ASN][1000 genomes]
rs16871492	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16871505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871508	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871511	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871514	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41397149	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41500944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155919	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186155	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56408419	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59586361	0.93[EUR][1000 genomes]
rs60492426	0.93[EUR][1000 genomes]
rs6448062	1.00[ASN][1000 genomes]
rs6813304	0.93[EUR][1000 genomes]
rs6824316	0.90[EUR][1000 genomes]
rs6824702	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6824711	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836213	0.93[EUR][1000 genomes]
rs6843752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6843837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6844068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6848885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6849321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252231	0.93[EUR][1000 genomes]
rs73252235	0.93[EUR][1000 genomes]
rs73252236	0.93[EUR][1000 genomes]
rs73252249	0.93[EUR][1000 genomes]
rs73252255	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252256	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252257	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252261	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252267	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252288	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252289	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252290	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254304	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254305	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254306	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254307	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254310	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254311	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254313	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254386	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254387	0.89[EUR][1000 genomes]
rs7657287	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7670800	1.00[ASN][1000 genomes]
rs7679874	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681243	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681823	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv829879	chr4:21418568-21611002	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv998481	chr4:21421945-21608805	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv829880	chr4:21492426-21693816	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1008716	chr4:21580423-21633636	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1003426	chr4:21580423-21640350	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21580600-21584400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21582800-21583800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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