Variant report

Variant	rs2432690
Chromosome Location	chr1:57760900-57760901
allele	C/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	chr1:57760674-57760965	IMR90	lung:	n/a	chr1:57760830-57760841
2	CEBPB	chr1:57760685-57761007	HepG2	liver:	n/a	chr1:57760830-57760841
3	CEBPB	chr1:57760684-57760962	K562	blood:	n/a	chr1:57760830-57760841

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11207002	1.00[CHB][hapmap]
rs11207005	0.89[ASN][1000 genomes]
rs1149628	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs11587719	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12135189	0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1811699	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1811700	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs197627	0.95[CHB][hapmap]
rs197643	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs197647	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs197650	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1991093	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2656093	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2656094	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2656095	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2764664	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2764665	0.84[EUR][1000 genomes]
rs2764666	0.85[ASN][1000 genomes]
rs485723	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs486809	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs487566	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs499397	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs501921	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs501970	0.83[ASN][1000 genomes]
rs508389	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs511707	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs545582	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs545671	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs561531	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs568843	0.91[EUR][1000 genomes]
rs576038	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs581886	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs587046	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs595513	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs595568	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs597941	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs610360	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs611276	0.82[CHB][hapmap]
rs611606	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs620214	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs622423	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs632935	0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs634391	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs637379	0.83[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs642526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs643382	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs648607	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs657612	0.81[EUR][1000 genomes]
rs659069	0.91[CHB][hapmap]
rs663975	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs674966	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs675075	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs680197	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs706385	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7529737	0.96[CHB][hapmap];0.82[JPT][hapmap]
rs833626	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs924850	1.00[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57747600-57769400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:57751600-57765600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57751600-57770600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57759800-57761000	Enhancers	Fetal Brain Female	brain
5	chr1:57760400-57762600	Weak transcription	Fetal Brain Male	brain

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