Variant report

Variant	rs11803239
Chromosome Location	chr1:47276081-47276082
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	CEBPB	chr1:47275979-47276251	K562	blood:	n/a	chr1:47276116-47276125 chr1:47276116-47276125 chr1:47276114-47276125 chr1:47276116-47276125 chr1:47276114-47276127 chr1:47276116-47276127 chr1:47276116-47276125
2	CEBPB	chr1:47275958-47276196	IMR90	lung:	n/a	chr1:47276116-47276125 chr1:47276116-47276125 chr1:47276114-47276125 chr1:47276116-47276125 chr1:47276114-47276127 chr1:47276116-47276127 chr1:47276116-47276125
3	CEBPB	chr1:47275993-47276259	HepG2	liver:	n/a	chr1:47276116-47276125 chr1:47276116-47276125 chr1:47276114-47276125 chr1:47276116-47276125 chr1:47276114-47276127 chr1:47276116-47276127 chr1:47276116-47276125

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47266762..47268483-chr1:47274674..47276282,2	MCF-7	breast:
2	chr1:47275758..47278616-chr1:47280662..47283634,2	K562	blood:

Variant related genes	Relation type
CYP4B1	TF binding region
ENSG00000142973	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1105456	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11801198	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803288	0.91[ASN][1000 genomes]
rs11811700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102443	1.00[MEX][hapmap]
rs45468297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs45470393	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45500401	1.00[ASN][1000 genomes]
rs45584834	1.00[ASN][1000 genomes]
rs45623939	1.00[ASN][1000 genomes]
rs45626036	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58445319	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs590582	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs59402146	0.91[ASN][1000 genomes]
rs59838435	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs632133	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs634431	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs682000	1.00[MEX][hapmap]
rs837401	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs837402	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs837403	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9332997	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1011086	chr1:47259078-47305191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv870538	chr1:47259138-47309265	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1010063	chr1:47264205-47285118	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1004143	chr1:47270942-47321982	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1004246	chr1:47274901-47321982	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47265600-47279200	Weak transcription	Gastric	stomach
2	chr1:47273400-47285600	Weak transcription	Spleen	Spleen
3	chr1:47273600-47276200	Weak transcription	Lung	lung
4	chr1:47273600-47276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:47273600-47276400	Weak transcription	Right Atrium	heart
6	chr1:47273600-47276400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:47275200-47276200	Strong transcription	Esophagus	oesophagus
8	chr1:47275600-47278200	Enhancers	Left Ventricle	heart
9	chr1:47275800-47276200	Weak transcription	Right Ventricle	heart
10	chr1:47275800-47277800	Weak transcription	Psoas Muscle	Psoas
11	chr1:47276000-47277600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:47276000-47278000	Enhancers	Adipose Nuclei	Adipose
13	chr1:47276000-47278000	Enhancers	Skeletal Muscle Male	skeletal muscle

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