Variant report

Variant	rs4072758
Chromosome Location	chr12:64219304-64219305
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	GATA3	chr12:64219260-64220223	MCF-7	breast:	n/a	chr12:64219551-64219572 chr12:64220189-64220199 chr12:64219808-64219829
2	CTCF	chr12:64219160-64219310	HCFaa	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64217509..64221238-chr12:64626563..64629980,3	MCF-7	breast:
2	chr12:64218848..64221454-chr12:64844872..64846756,2	MCF-7	breast:

Variant related genes	Relation type
TMEM5-AS1	TF binding region
ENSG00000183735	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506464	0.87[ASN][1000 genomes]
rs11175184	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11175185	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11175188	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11175189	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11175197	0.83[ASN][1000 genomes]
rs11833808	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11835034	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12228199	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12229790	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12579795	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17099866	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2335884	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35143986	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3888050	0.85[AFR][1000 genomes]
rs55642517	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55655348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760535	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55907605	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55930806	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028204	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56080061	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56264182	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58424013	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59063572	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60031756	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581509	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6581510	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66856673	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67401817	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67684483	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67830727	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67880496	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67892056	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67993208	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68188132	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136130	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7294327	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301437	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302672	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304340	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305893	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308850	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7310327	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7310329	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310575	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7311353	0.92[EUR][1000 genomes]
rs7311611	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313479	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73315321	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73315365	0.84[ASN][1000 genomes]
rs7953208	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64216000-64224200	Weak transcription	Aorta	Aorta
2	chr12:64216200-64219600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:64216200-64237000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:64216400-64219800	Weak transcription	Fetal Kidney	kidney
5	chr12:64216400-64220200	Weak transcription	Fetal Lung	lung
6	chr12:64216600-64219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:64216600-64219600	Weak transcription	Osteobl	bone
8	chr12:64217000-64219600	Weak transcription	NHDF-Ad	bronchial
9	chr12:64217600-64220000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:64219200-64219400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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