Variant report

Variant	rs6748388
Chromosome Location	chr2:134397457-134397458
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	chr2:134393103..134394680-chr2:134395761..134398691,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10165896	0.94[EUR][1000 genomes]
rs10169733	0.86[EUR][1000 genomes]
rs10171394	0.94[EUR][1000 genomes]
rs10177415	0.96[EUR][1000 genomes]
rs10185005	0.91[EUR][1000 genomes]
rs10192051	0.94[EUR][1000 genomes]
rs10193288	0.86[EUR][1000 genomes]
rs10193580	0.94[EUR][1000 genomes]
rs10206506	0.85[EUR][1000 genomes]
rs12328892	0.94[EUR][1000 genomes]
rs13391014	0.96[EUR][1000 genomes]
rs13393385	0.94[EUR][1000 genomes]
rs13404397	0.96[EUR][1000 genomes]
rs13409971	0.94[EUR][1000 genomes]
rs13412577	0.96[EUR][1000 genomes]
rs13416986	0.96[EUR][1000 genomes]
rs13425366	0.96[EUR][1000 genomes]
rs13429974	0.94[EUR][1000 genomes]
rs13430360	0.96[EUR][1000 genomes]
rs13430590	0.96[EUR][1000 genomes]
rs13431505	0.96[EUR][1000 genomes]
rs13431618	0.96[EUR][1000 genomes]
rs1901428	0.96[EUR][1000 genomes]
rs1901449	0.96[EUR][1000 genomes]
rs1993136	0.89[EUR][1000 genomes]
rs1993137	0.91[EUR][1000 genomes]
rs2084808	0.94[EUR][1000 genomes]
rs2084809	0.94[EUR][1000 genomes]
rs2167528	0.81[ASN][1000 genomes]
rs2278851	0.96[EUR][1000 genomes]
rs2320938	0.84[ASN][1000 genomes]
rs28478058	0.94[EUR][1000 genomes]
rs28514481	0.91[EUR][1000 genomes]
rs58763272	0.83[AFR][1000 genomes]
rs59085210	0.94[EUR][1000 genomes]
rs59654119	0.83[ASN][1000 genomes]
rs60598686	0.94[EUR][1000 genomes]
rs62179347	0.91[EUR][1000 genomes]
rs62180296	0.94[EUR][1000 genomes]
rs62180299	0.96[EUR][1000 genomes]
rs62180300	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62180302	0.96[EUR][1000 genomes]
rs62180303	0.96[EUR][1000 genomes]
rs6730046	0.94[EUR][1000 genomes]
rs6733088	0.94[EUR][1000 genomes]
rs67792617	0.96[EUR][1000 genomes]
rs7422753	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv2934	chr2:134368478-134412454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv998920	chr2:134382097-134424640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134392000-134397800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:134392200-134398400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:134392200-134398800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:134392800-134399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:134395000-134399600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:134395800-134402800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:134396600-134398000	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:134396600-134399000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:134397000-134397600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:134397000-134398800	Active TSS	Brain Anterior Caudate	brain
11	chr2:134397000-134399000	Active TSS	Brain Hippocampus Middle	brain
12	chr2:134397200-134399200	Active TSS	Brain Substantia Nigra	brain
13	chr2:134397200-134399200	Flanking Active TSS	NHEK	skin
14	chr2:134397400-134397600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:134397400-134397600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:134397400-134398600	Active TSS	HMEC	breast

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