Variant report

Variant	rs7659752
Chromosome Location	chr4:124671990-124671991
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	EP300	chr4:124670552-124672030	ECC-1	luminal epithelium:	n/a	chr4:124670958-124670967 chr4:124670954-124670968 chr4:124671303-124671312

Variant related genes	Relation type
RPL21P50	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10518423	0.98[EUR][1000 genomes]
rs11098720	0.98[EUR][1000 genomes]
rs11098721	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11940296	0.98[EUR][1000 genomes]
rs12499970	0.81[EUR][1000 genomes]
rs12501940	0.98[EUR][1000 genomes]
rs12511921	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1364872	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1368507	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1425418	0.98[EUR][1000 genomes]
rs16997770	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17007229	0.96[EUR][1000 genomes]
rs17007245	0.98[EUR][1000 genomes]
rs1820372	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060286	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28776500	0.98[EUR][1000 genomes]
rs35477987	0.98[EUR][1000 genomes]
rs4833287	0.87[EUR][1000 genomes]
rs4833288	0.98[EUR][1000 genomes]
rs4833940	0.98[EUR][1000 genomes]
rs4833953	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57303010	0.98[EUR][1000 genomes]
rs6820127	0.98[EUR][1000 genomes]
rs6820130	0.99[EUR][1000 genomes]
rs6823436	0.98[EUR][1000 genomes]
rs6825185	0.99[EUR][1000 genomes]
rs6847923	0.98[EUR][1000 genomes]
rs6848387	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621841	0.91[EUR][1000 genomes]
rs72621843	0.98[EUR][1000 genomes]
rs919015	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs963892	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124663600-124676600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:124667200-124676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:124667400-124673200	Weak transcription	Aorta	Aorta
4	chr4:124667800-124672000	Enhancers	Fetal Muscle Leg	muscle
5	chr4:124670000-124672200	Enhancers	Fetal Intestine Small	intestine
6	chr4:124670000-124672600	Enhancers	Fetal Intestine Large	intestine
7	chr4:124670600-124672000	Enhancers	Hela-S3	cervix
8	chr4:124670600-124672000	Enhancers	HepG2	liver
9	chr4:124671200-124672000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:124671400-124673600	Weak transcription	Lung	lung
11	chr4:124671600-124672000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:124671800-124672000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:124671800-124672000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:124671800-124676800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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