Variant report

Variant	rs674966
Chromosome Location	chr1:57741933-57741934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10889033	0.88[ASN][1000 genomes]
rs11207002	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1149628	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs11587719	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12088611	0.88[ASN][1000 genomes]
rs12135189	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs12143340	0.88[ASN][1000 genomes]
rs1424473	0.82[CEU][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs1811699	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1811700	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs197627	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs197643	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs197647	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs197650	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1991093	0.94[ASN][1000 genomes]
rs2432690	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2656095	0.95[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs2764664	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764665	0.85[MEX][hapmap]
rs2764666	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471548	0.87[ASN][1000 genomes]
rs485723	0.97[ASN][1000 genomes]
rs492781	1.00[ASW][hapmap];0.81[GIH][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs492986	0.86[ASN][1000 genomes]
rs499397	0.81[MEX][hapmap]
rs501921	0.95[ASN][1000 genomes]
rs501970	0.88[ASN][1000 genomes]
rs508389	0.94[ASN][1000 genomes]
rs511707	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs524171	0.86[ASN][1000 genomes]
rs545582	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]
rs545671	0.86[ASN][1000 genomes]
rs561531	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568843	0.86[ASN][1000 genomes]
rs576038	0.86[ASN][1000 genomes]
rs581886	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs583845	0.86[ASN][1000 genomes]
rs584147	0.85[MEX][hapmap]
rs595513	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.95[ASN][1000 genomes]
rs596784	0.96[CEU][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs597941	0.89[TSI][hapmap]
rs610360	0.95[ASN][1000 genomes]
rs611276	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs611606	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs622423	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627550	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs632935	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs634391	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.86[ASN][1000 genomes]
rs637379	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642526	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs643382	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs648607	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659069	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs663975	0.81[MEX][hapmap];0.89[TSI][hapmap]
rs680197	0.95[ASN][1000 genomes]
rs706385	0.81[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap]
rs7529737	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs833626	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs924850	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2754702	chr1:57716116-57743244	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs674966	ACOT11	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57735000-57742400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:57735200-57747200	Weak transcription	Esophagus	oesophagus
3	chr1:57737400-57746800	Weak transcription	Fetal Brain Female	brain
4	chr1:57737600-57742000	Weak transcription	Liver	Liver
5	chr1:57737600-57744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:57741400-57742200	Enhancers	Fetal Brain Male	brain
7	chr1:57741800-57749400	Enhancers	Fetal Intestine Small	intestine

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