Variant report

Variant	rs13395151
Chromosome Location	chr2:178753628-178753629
allele	A/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	CEBPB	chr2:178753356-178753745	ECC-1	luminal epithelium:	n/a	n/a
2	FOS	chr2:178753364-178753677	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF12	chr2:178753266-178753862	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr2:178753185-178753843	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr2:178753299-178753796	ECC-1	luminal epithelium:	n/a	n/a
6	MYC	chr2:178753260-178753733	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr2:178753331-178753690	HepG2	liver:	n/a	n/a
8	MYC	chr2:178753397-178753684	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr2:178753500-178753646	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr2:178753324-178753913	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr2:178753335-178753825	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
PDE11A	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10174152	0.93[YRI][hapmap]
rs10186697	1.00[AMR][1000 genomes]
rs10195518	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10202419	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382373	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13384920	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385419	0.83[AMR][1000 genomes]
rs13387463	0.81[YRI][hapmap]
rs13398395	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398604	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399957	0.83[AMR][1000 genomes]
rs13403540	0.93[YRI][hapmap]
rs13406220	0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13426284	0.83[AMR][1000 genomes]
rs13427600	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429906	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60230155	1.00[AMR][1000 genomes]
rs7556748	1.00[YRI][hapmap]
rs7569124	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9973525	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2756313	chr2:178750158-178768683	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2754225	chr2:178750493-178768493	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178746000-178759200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:178751000-178754200	Enhancers	Liver	Liver
4	chr2:178751800-178755600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:178752600-178754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:178753200-178755400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:178753400-178753800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:178753400-178753800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:178753400-178755200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:178753400-178755200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:178753400-178755400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:178753400-178755400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:178753400-178755600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:178753600-178754600	Weak transcription	Psoas Muscle	Psoas
15	chr2:178753600-178755200	Enhancers	HUES48 Cell Line	embryonic stem cell

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