Variant report

Variant	rs2788144
Chromosome Location	chr1:212069929-212069930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap]
rs10863927	0.91[EUR][1000 genomes]
rs10863938	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11119818	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11119819	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1418047	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1539196	0.86[EUR][1000 genomes]
rs1586660	1.00[TSI][hapmap]
rs2000168	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs2050953	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2105322	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788128	0.91[EUR][1000 genomes]
rs2788129	0.91[EUR][1000 genomes]
rs2788130	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2788131	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788134	0.86[EUR][1000 genomes]
rs2788135	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2788136	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788137	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2788141	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2788142	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2788146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808380	1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2808383	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2808384	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2808387	0.91[EUR][1000 genomes]
rs2808388	1.00[TSI][hapmap]
rs2808390	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28475044	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28851183	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2970573	0.91[EUR][1000 genomes]
rs2970574	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2970575	0.91[EUR][1000 genomes]
rs2970576	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2970581	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970585	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970586	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2970600	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs2993525	1.00[CEU][hapmap]
rs2993527	1.00[CEU][hapmap]
rs2993530	0.86[EUR][1000 genomes]
rs2993532	0.86[EUR][1000 genomes]
rs2993535	1.00[TSI][hapmap]
rs2993536	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2993537	0.86[EUR][1000 genomes]
rs2993540	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2993542	0.91[EUR][1000 genomes]
rs2993543	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2993546	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2993549	1.00[CEU][hapmap]
rs3009986	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs3009990	0.86[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009994	1.00[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs3009995	0.86[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009998	0.86[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010008	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs3010014	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3010015	1.00[CEU][hapmap]
rs3010017	1.00[CEU][hapmap]
rs3010018	1.00[CEU][hapmap]
rs3010022	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3010029	1.00[TSI][hapmap]
rs4245744	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs4397712	1.00[CEU][hapmap]
rs4508084	0.91[EUR][1000 genomes]
rs4579825	0.91[EUR][1000 genomes]
rs4951424	0.86[EUR][1000 genomes]
rs4951427	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951429	0.91[EUR][1000 genomes]
rs4951430	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4951432	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4951437	1.00[CEU][hapmap]
rs4951547	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951549	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs60146950	0.86[EUR][1000 genomes]
rs6540710	0.91[EUR][1000 genomes]
rs6656826	1.00[CEU][hapmap]
rs6658972	1.00[CEU][hapmap]
rs6664386	0.81[EUR][1000 genomes]
rs6669803	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6672030	1.00[CEU][hapmap]
rs6672393	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6685282	0.91[EUR][1000 genomes]
rs6689342	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6693275	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6697341	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6699292	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6699981	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7413558	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7517565	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7545377	0.91[EUR][1000 genomes]
rs7553567	0.84[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	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212063200-212070200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:212063200-212070200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:212063200-212074600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212066800-212070000	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:212068600-212070400	Enhancers	A549	lung
6	chr1:212069200-212071400	Enhancers	HepG2	liver
7	chr1:212069200-212075200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:212069400-212070200	Weak transcription	K562	blood
9	chr1:212069400-212073800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:212069600-212073800	Weak transcription	Fetal Intestine Small	intestine

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