Variant report

Variant	rs11568994
Chromosome Location	chr4:110897535-110897536
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	CEBPB	chr4:110897392-110897759	H1-hESC	embryonic stem cell:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589
2	CEBPB	chr4:110897391-110897770	HepG2	liver:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589
3	CEBPB	chr4:110897346-110897784	K562	blood:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589 chr4:110897760-110897771
4	CEBPB	chr4:110897392-110897756	K562	blood:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589
5	CEBPB	chr4:110897397-110897772	A549	lung:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589 chr4:110897760-110897771
6	CEBPB	chr4:110897367-110897715	ECC-1	luminal epithelium:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589
7	CEBPB	chr4:110897375-110897728	A549	lung:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589
8	CEBPB	chr4:110897362-110897766	ECC-1	luminal epithelium:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589
9	CEBPB	chr4:110897398-110897853	A549	lung:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589 chr4:110897760-110897771
10	CEBPB	chr4:110897391-110897787	IMR90	lung:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589 chr4:110897760-110897771
11	CEBPB	chr4:110897421-110897768	Hela-S3	cervix:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589
12	CEBPB	chr4:110897397-110897731	MCF-7	breast:	n/a	chr4:110897580-110897589 chr4:110897580-110897589 chr4:110897578-110897589 chr4:110897580-110897589

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110879135..110880960-chr4:110896345..110898821,2	K562	blood:
2	chr4:110887831..110890473-chr4:110895882..110898637,2	MCF-7	breast:

Variant related genes	Relation type
EGF	TF binding region
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10002971	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011112	0.87[CEU][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10014383	0.87[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs10023272	0.87[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10029105	0.85[EUR][1000 genomes]
rs10029654	0.83[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10213531	0.83[EUR][1000 genomes]
rs1024600	0.83[CEU][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs10470911	0.87[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs10488881	0.87[CEU][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs11098056	0.80[EUR][1000 genomes]
rs11568950	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11568972	0.87[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11569100	0.85[AMR][1000 genomes]
rs17253063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024114	0.83[EUR][1000 genomes]
rs2067004	0.83[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs2190909	0.82[EUR][1000 genomes]
rs2237041	0.87[CEU][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs2237045	0.84[EUR][1000 genomes]
rs2250616	0.87[CEU][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs2282785	0.85[EUR][1000 genomes]
rs2298977	0.83[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs2347136	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs28437404	0.84[EUR][1000 genomes]
rs28535066	0.82[EUR][1000 genomes]
rs28540029	0.86[EUR][1000 genomes]
rs28564978	0.86[EUR][1000 genomes]
rs28629923	0.84[EUR][1000 genomes]
rs28672708	0.85[EUR][1000 genomes]
rs28734982	0.83[EUR][1000 genomes]
rs3764861	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs3775967	0.84[EUR][1000 genomes]
rs3796945	0.86[EUR][1000 genomes]
rs3796946	0.87[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs3822288	0.83[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs4279279	0.83[EUR][1000 genomes]
rs4698755	0.83[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs4698756	0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs4698800	0.83[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs4698801	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs62325265	0.88[AMR][1000 genomes]
rs62327604	0.83[EUR][1000 genomes]
rs6533481	0.85[EUR][1000 genomes]
rs6837717	0.87[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6850557	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655579	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7668520	0.83[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs881878	0.87[CEU][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs9307347	0.86[EUR][1000 genomes]
rs9991904	0.84[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.88[AMR][1000 genomes]
rs9992755	0.83[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11568994	GAR1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
3	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
4	chr4:110890400-110900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:110891200-110900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:110891800-110900000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:110893800-110909600	Weak transcription	Fetal Heart	heart
8	chr4:110894800-110900000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:110894800-110900800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:110895000-110899600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:110895000-110899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:110895000-110899600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:110895000-110900000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:110895000-110900800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:110895000-110909600	Weak transcription	Fetal Intestine Small	intestine
16	chr4:110895000-110928600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:110895400-110899000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:110895600-110898200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:110897200-110898000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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