Variant report

Variant	rs72852633
Chromosome Location	chr2:142897764-142897765
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	GATA3	chr2:142896665-142897846	SH-SY5Y	brain:	n/a	chr2:142897181-142897202 chr2:142896782-142896791 chr2:142897186-142897195 chr2:142897188-142897199
2	GATA3	chr2:142896939-142897788	SK-N-SH	brain:	n/a	chr2:142897181-142897202 chr2:142897186-142897195 chr2:142897188-142897199
3	EP300	chr2:142896284-142898365	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr2:142896353-142898324	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr2:142897763-142898219	A549	lung:	n/a	n/a
6	CTCF	chr2:142897740-142897890	SAEC	small airway:	n/a	n/a
7	RAD21	chr2:142896326-142898874	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr2:142897619-142898428	A549	lung:	n/a	chr2:142898102-142898120 chr2:142898097-142898118 chr2:142898067-142898075

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142886506..142889089-chr2:142896828..142901902,6	MCF-7	breast:
2	chr2:142894381..142895892-chr2:142895976..142898134,2	K562	blood:

Variant related genes	Relation type
ENSG00000244125	TF binding region
ENSG00000168702	Chromatin interaction
ENSG00000244125	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13029758	0.90[EUR][1000 genomes]
rs1375608	0.84[EUR][1000 genomes]
rs1449488	0.82[EUR][1000 genomes]
rs17776027	0.97[EUR][1000 genomes]
rs17776043	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17834293	0.84[EUR][1000 genomes]
rs2290142	0.82[EUR][1000 genomes]
rs4662397	0.82[EUR][1000 genomes]
rs4662398	0.82[EUR][1000 genomes]
rs6707007	0.80[EUR][1000 genomes]
rs72847083	0.82[EUR][1000 genomes]
rs72847089	0.82[EUR][1000 genomes]
rs72849805	0.82[EUR][1000 genomes]
rs72849811	0.82[EUR][1000 genomes]
rs72849830	0.84[EUR][1000 genomes]
rs72849836	0.84[EUR][1000 genomes]
rs72849851	0.84[EUR][1000 genomes]
rs72851456	0.84[EUR][1000 genomes]
rs72851466	0.84[EUR][1000 genomes]
rs72852610	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72852654	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72853430	0.87[EUR][1000 genomes]
rs72853432	0.87[EUR][1000 genomes]
rs72853692	0.82[EUR][1000 genomes]
rs7594671	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][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	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv875255	chr2:142894573-142963976	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875256	chr2:142894573-142994328	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv875257	chr2:142894573-143041082	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:142889200-142900800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142896800-142898000	Enhancers	Dnd41	blood
3	chr2:142897400-142898000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:142897600-142898000	Active TSS	Brain Anterior Caudate	brain

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