Variant report

Variant	rs56252039
Chromosome Location	chr1:95234325-95234326
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	chr1:95231618..95234731-chr1:95235061..95238430,4	K562	blood:
2	chr1:95233912..95236157-chr1:95236428..95238562,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11165239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057287	1.00[EUR][1000 genomes]
rs12058606	1.00[EUR][1000 genomes]
rs12058766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081570	1.00[EUR][1000 genomes]
rs12083162	1.00[EUR][1000 genomes]
rs12085965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086647	1.00[EUR][1000 genomes]
rs12086825	1.00[EUR][1000 genomes]
rs12089732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091334	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095617	1.00[EUR][1000 genomes]
rs3916208	1.00[EUR][1000 genomes]
rs3931243	1.00[EUR][1000 genomes]
rs56004399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075866	1.00[EUR][1000 genomes]
rs56088880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56989877	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58484675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59906561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60642625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61371315	1.00[EUR][1000 genomes]
rs61634360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665321	1.00[EUR][1000 genomes]
rs72956408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101525	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101528	1.00[EUR][1000 genomes]
rs74101530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540383	1.00[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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95221400-95234600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95221600-95239000	Weak transcription	Fetal Intestine Large	intestine
3	chr1:95223800-95241600	Weak transcription	Aorta	Aorta
4	chr1:95224000-95237800	Weak transcription	NHLF	lung
5	chr1:95224800-95237000	Weak transcription	Pancreas	Pancrea
6	chr1:95231400-95238000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:95232600-95234800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:95232600-95235000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:95233000-95234400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:95233800-95238800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:95234000-95234800	Strong transcription	Fetal Intestine Small	intestine
12	chr1:95234200-95235000	Enhancers	Lung	lung
13	chr1:95234200-95236200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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