Variant report

Variant	rs413652
Chromosome Location	chr5:111702551-111702552
allele	C/T
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	CTCF	chr5:111702540-111702690	GM06990	blood:	n/a	n/a
2	CTCF	chr5:111702420-111702570	A549	lung:	n/a	n/a
3	CTCF	chr5:111702439-111703169	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248350	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038904	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10056378	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10068536	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs10478075	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs13361927	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs173889	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs236041	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs255717	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs373362	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs375309	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs379440	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs451904	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55858222	0.83[EUR][1000 genomes]
rs56212971	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56219213	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56281497	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56359113	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781647	0.82[EUR][1000 genomes]
rs72781651	0.83[EUR][1000 genomes]
rs72781662	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781672	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781674	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781684	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781686	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111684000-111702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:111685200-111707000	Weak transcription	Ovary	ovary
3	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
4	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
5	chr5:111693800-111703200	Weak transcription	Right Ventricle	heart
6	chr5:111701400-111703600	Enhancers	Fetal Heart	heart
7	chr5:111701600-111712200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:111701800-111702600	Enhancers	Lung	lung
9	chr5:111701800-111704600	Enhancers	Right Atrium	heart
10	chr5:111701800-111704800	Enhancers	Left Ventricle	heart
11	chr5:111702200-111702800	Enhancers	Gastric	stomach

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