Variant report

Variant	rs73918426
Chromosome Location	chr2:12174376-12174377
allele	C/T
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	POLR2A	chr2:12171335-12176486	GM12891	blood:	n/a	n/a
2	POLR2A	chr2:12171416-12174858	Raji	blood:	n/a	n/a
3	MTA3	chr2:12174153-12174953	GM12878	blood:	n/a	n/a
4	ATF2	chr2:12174320-12175009	GM12878	blood:	n/a	n/a
5	WRNIP1	chr2:12174264-12174406	GM12878	blood:	n/a	n/a
6	MEF2A	chr2:12174324-12174923	GM12878	blood:	n/a	chr2:12174654-12174670 chr2:12174654-12174669 chr2:12174653-12174668 chr2:12174574-12174595
7	MEF2C	chr2:12174339-12174911	GM12878	blood:	n/a	chr2:12174654-12174669 chr2:12174654-12174670 chr2:12174654-12174669 chr2:12174653-12174668 chr2:12174574-12174595
8	RUNX3	chr2:12174365-12175078	GM12878	blood:	n/a	chr2:12174681-12174696
9	RUNX3	chr2:12174344-12174959	GM12878	blood:	n/a	chr2:12174681-12174696
10	NFIC	chr2:12174335-12174909	GM12878	blood:	n/a	n/a
11	MEF2A	chr2:12174330-12174966	GM12878	blood:	n/a	chr2:12174654-12174670 chr2:12174654-12174669 chr2:12174653-12174668 chr2:12174574-12174595

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12142937..12145403-chr2:12173680..12175523,2	K562	blood:

Variant related genes	Relation type
ENSG00000238503	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12463701	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12464227	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12469736	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12471363	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12475585	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12476249	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28420399	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56260961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59609793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60195725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60873627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73915889	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73915899	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73915902	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918407	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73918410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73918434	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12171200-12178000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12172200-12176000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:12172400-12174400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:12172400-12175800	Weak transcription	K562	blood
5	chr2:12172800-12175400	Weak transcription	Ovary	ovary
6	chr2:12172800-12176000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:12173400-12176600	Enhancers	GM12878-XiMat	blood
8	chr2:12173400-12177600	Enhancers	Primary B cells from cord blood	blood
9	chr2:12173600-12174800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:12173600-12175200	Weak transcription	HSMMtube	muscle
11	chr2:12173800-12175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:12173800-12175200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:12173800-12175400	Weak transcription	HSMM	muscle
14	chr2:12174000-12175000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:12174000-12175400	Weak transcription	Osteobl	bone
16	chr2:12174200-12174600	Weak transcription	NHDF-Ad	bronchial
17	chr2:12174200-12175600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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