Variant report

Variant	rs13388313
Chromosome Location	chr2:111551763-111551764
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	RFX5	chr2:111551710-111551838	HepG2	liver:	n/a	n/a
2	CTCF	chr2:111551640-111551790	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ACOXL	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs12474907	1.00[CEU][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13421709	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13426054	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17041539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17041553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17041554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap]
rs17041555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17041561	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs17464100	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28452164	0.92[ASN][1000 genomes]
rs34026418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3817265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4255970	0.92[ASN][1000 genomes]
rs55682108	0.85[ASN][1000 genomes]
rs55780486	1.00[ASN][1000 genomes]
rs55857945	0.92[ASN][1000 genomes]
rs55875530	0.85[ASN][1000 genomes]
rs55927063	0.85[ASN][1000 genomes]
rs56062220	0.85[ASN][1000 genomes]
rs56169320	1.00[ASN][1000 genomes]
rs56177778	0.85[ASN][1000 genomes]
rs56181028	0.85[ASN][1000 genomes]
rs56202720	0.85[ASN][1000 genomes]
rs56272335	0.85[ASN][1000 genomes]
rs56281800	1.00[ASN][1000 genomes]
rs56289191	0.85[ASN][1000 genomes]
rs57101781	0.96[ASN][1000 genomes]
rs57847126	1.00[ASN][1000 genomes]
rs58054304	0.85[ASN][1000 genomes]
rs58588523	0.92[ASN][1000 genomes]
rs59258102	0.92[ASN][1000 genomes]
rs60185821	1.00[ASN][1000 genomes]
rs60357733	1.00[ASN][1000 genomes]
rs61376946	0.96[ASN][1000 genomes]
rs6728168	0.92[EUR][1000 genomes]
rs6752335	0.80[EUR][1000 genomes]
rs68130860	0.92[EUR][1000 genomes]
rs72828847	0.92[EUR][1000 genomes]
rs72828848	0.92[EUR][1000 genomes]
rs72828850	0.92[EUR][1000 genomes]
rs72828861	0.85[ASN][1000 genomes]
rs72830976	0.85[ASN][1000 genomes]
rs72830979	0.85[ASN][1000 genomes]
rs72830980	0.82[ASN][1000 genomes]
rs72830982	0.85[ASN][1000 genomes]
rs72830984	0.85[ASN][1000 genomes]
rs72830985	0.85[ASN][1000 genomes]
rs72830986	0.85[ASN][1000 genomes]
rs72830990	0.85[ASN][1000 genomes]
rs72830995	0.92[ASN][1000 genomes]
rs72830996	0.92[ASN][1000 genomes]
rs72830997	0.92[ASN][1000 genomes]
rs72831000	0.92[ASN][1000 genomes]
rs72832803	0.86[ASN][1000 genomes]
rs72832804	0.92[ASN][1000 genomes]
rs72832809	0.92[ASN][1000 genomes]
rs72832810	0.92[ASN][1000 genomes]
rs72832812	1.00[ASN][1000 genomes]
rs72832813	1.00[ASN][1000 genomes]
rs72832815	1.00[ASN][1000 genomes]
rs72832816	0.96[ASN][1000 genomes]
rs72832817	1.00[ASN][1000 genomes]
rs72832818	1.00[ASN][1000 genomes]
rs72832820	1.00[ASN][1000 genomes]
rs72832821	1.00[ASN][1000 genomes]
rs72832822	1.00[ASN][1000 genomes]
rs72832824	1.00[ASN][1000 genomes]
rs72832826	0.92[ASN][1000 genomes]
rs72832828	1.00[ASN][1000 genomes]
rs72832837	0.96[ASN][1000 genomes]
rs72832838	0.96[ASN][1000 genomes]
rs72832839	0.96[ASN][1000 genomes]
rs72832840	0.96[ASN][1000 genomes]
rs72832841	0.96[ASN][1000 genomes]
rs72832842	0.96[ASN][1000 genomes]
rs72832843	0.96[ASN][1000 genomes]
rs7419932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7592058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs981196	1.00[CEU][hapmap]

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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13388313	AC013268.5	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111531200-111566200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111531600-111556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:111531600-111558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:111544000-111551800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:111546800-111553000	Weak transcription	Lung	lung
6	chr2:111547200-111554000	Weak transcription	Fetal Brain Female	brain
7	chr2:111548800-111552600	Weak transcription	Fetal Brain Male	brain
8	chr2:111550600-111552200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:111550600-111553000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:111550800-111553000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:111551200-111552200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:111551200-111555000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:111551600-111552200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr2:111551600-111552400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:111551600-111553200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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