Variant report

Variant	rs11585861
Chromosome Location	chr1:45166383-45166384
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	ARID3A	chr1:45166314-45167169	HepG2	liver:	n/a	n/a
2	MYBL2	chr1:45166287-45166639	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:45166320-45166626	HepG2	liver:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
4	CEBPB	chr1:45166303-45166556	A549	lung:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
5	FOXA1	chr1:45166295-45167274	HepG2	liver:	n/a	chr1:45166983-45166998
6	FOXA1	chr1:45166314-45166554	T-47D	breast:	n/a	n/a
7	CEBPD	chr1:45166318-45166527	HepG2	liver:	n/a	n/a
8	FOXA1	chr1:45166327-45166512	T-47D	breast:	n/a	n/a
9	CEBPB	chr1:45166266-45166924	HepG2	liver:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
10	CEBPB	chr1:45166335-45166547	K562	blood:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
11	CEBPB	chr1:45166334-45166550	HepG2	liver:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
12	ATF3	chr1:45166267-45166600	K562	blood:	n/a	n/a
13	CEBPB	chr1:45166280-45166607	IMR90	lung:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
14	FOXA1	chr1:45166224-45167344	HepG2	liver:	n/a	chr1:45166983-45166998
15	JUN	chr1:45166320-45166616	HepG2	liver:	n/a	chr1:45166441-45166454
16	FOXA2	chr1:45166274-45166613	HepG2	liver:	n/a	n/a
17	MYBL2	chr1:45166299-45167333	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:45166295-45166513	Hela-S3	cervix:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
19	CEBPB	chr1:45166356-45166657	MCF-7	breast:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
20	CEBPB	chr1:45166292-45166695	MCF-7	breast:	n/a	chr1:45166443-45166456 chr1:45166444-45166455
21	JUND	chr1:45166305-45166614	HepG2	liver:	n/a	n/a
22	FOXA2	chr1:45166065-45167512	HepG2	liver:	n/a	n/a
23	TEAD4	chr1:45166291-45167333	HepG2	liver:	n/a	n/a
24	FOXA1	chr1:45166234-45166675	HepG2	liver:	n/a	n/a
25	FOXA1	chr1:45166197-45166709	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
C1orf228	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12568210	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs72671992	0.86[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11585861	TIE1	cis	parietal	SCAN
rs11585861	SNORD55	cis	cerebellum	SCAN
rs11585861	SNORD55	cis	parietal	SCAN
rs11585861	CYP4X1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45143600-45171800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:45146000-45172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45159200-45172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:45161200-45173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:45162600-45172400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:45163200-45173800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:45164200-45168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:45164800-45173400	Weak transcription	GM12878-XiMat	blood
9	chr1:45165800-45166400	Enhancers	HepG2	liver
10	chr1:45165800-45167000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:45166000-45167000	Enhancers	Liver	Liver

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