Variant report

Variant	rs545582
Chromosome Location	chr1:57767050-57767051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57762959..57764733-chr1:57765610..57768208,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10889033	0.81[ASN][1000 genomes]
rs11207002	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1149628	0.95[CHB][hapmap]
rs11587719	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12088611	0.81[ASN][1000 genomes]
rs12135189	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1424473	0.81[TSI][hapmap]
rs1811699	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1811700	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs197627	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs197643	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs197647	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs197650	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1991093	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2432690	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2656095	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2764664	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2764666	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs485723	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492781	0.85[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs499397	0.81[MEX][hapmap]
rs501921	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs501970	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs508389	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs511707	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs545671	0.85[ASN][1000 genomes]
rs561531	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs568843	0.81[ASN][1000 genomes]
rs576038	0.85[ASN][1000 genomes]
rs581886	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs595513	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs596784	0.90[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes]
rs597941	0.81[TSI][hapmap]
rs610360	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs611276	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs611606	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs622423	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs632935	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs634391	0.89[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs637379	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642526	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs643382	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs648607	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs659069	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs663975	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs674966	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs680197	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs706385	0.90[MEX][hapmap];0.81[TSI][hapmap]
rs7529737	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs833626	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs924850	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs545582	ACOT11	cis	parietal	SCAN

Chromatin state (count:11 , 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	chr1:57751600-57770600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57763600-57768000	Weak transcription	Fetal Brain Female	brain
4	chr1:57763600-57769000	Weak transcription	Fetal Brain Male	brain
5	chr1:57765600-57767800	Strong transcription	Fetal Intestine Small	intestine
6	chr1:57766000-57767200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:57766400-57769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:57766800-57767200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:57767000-57767200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:57767000-57767200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:57767000-57767600	Enhancers	H9 Cell Line	embryonic stem cell

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