Variant report

Variant	rs72843232
Chromosome Location	chr2:134429971-134429972
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134429609..134432555-chr2:134438012..134440647,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10165896	0.93[ASN][1000 genomes]
rs10169733	0.93[ASN][1000 genomes]
rs10171394	0.93[ASN][1000 genomes]
rs10177415	0.86[ASN][1000 genomes]
rs10185005	0.93[ASN][1000 genomes]
rs10185520	0.86[ASN][1000 genomes]
rs10192051	0.93[ASN][1000 genomes]
rs10193288	0.93[ASN][1000 genomes]
rs10193374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193580	0.93[ASN][1000 genomes]
rs10206506	0.93[ASN][1000 genomes]
rs12328892	0.93[ASN][1000 genomes]
rs13385411	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391014	0.93[ASN][1000 genomes]
rs13393385	0.93[ASN][1000 genomes]
rs13404176	0.93[ASN][1000 genomes]
rs13404397	0.86[ASN][1000 genomes]
rs13407575	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13409971	0.93[ASN][1000 genomes]
rs13412577	0.93[ASN][1000 genomes]
rs13416986	0.86[ASN][1000 genomes]
rs13419634	0.93[ASN][1000 genomes]
rs13425366	0.86[ASN][1000 genomes]
rs13429974	0.93[ASN][1000 genomes]
rs13430360	0.93[ASN][1000 genomes]
rs13430590	0.93[ASN][1000 genomes]
rs13431505	0.93[ASN][1000 genomes]
rs13431618	0.93[ASN][1000 genomes]
rs16827735	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1901428	0.86[ASN][1000 genomes]
rs1901429	0.86[ASN][1000 genomes]
rs1901432	0.93[ASN][1000 genomes]
rs1901433	0.93[ASN][1000 genomes]
rs1901449	0.86[ASN][1000 genomes]
rs1993136	0.93[ASN][1000 genomes]
rs1993137	0.93[ASN][1000 genomes]
rs2084808	0.93[ASN][1000 genomes]
rs2084809	0.93[ASN][1000 genomes]
rs2278851	0.86[ASN][1000 genomes]
rs28478058	0.93[ASN][1000 genomes]
rs28514481	0.93[ASN][1000 genomes]
rs55646124	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57451360	0.93[ASN][1000 genomes]
rs58763272	0.93[ASN][1000 genomes]
rs59085210	0.93[ASN][1000 genomes]
rs60598686	0.93[ASN][1000 genomes]
rs62177769	1.00[ASN][1000 genomes]
rs62179347	0.93[ASN][1000 genomes]
rs62180296	0.93[ASN][1000 genomes]
rs62180299	0.93[ASN][1000 genomes]
rs62180300	0.93[ASN][1000 genomes]
rs62180302	0.86[ASN][1000 genomes]
rs62180303	0.86[ASN][1000 genomes]
rs6730046	0.93[ASN][1000 genomes]
rs6733088	0.93[ASN][1000 genomes]
rs67792617	0.86[ASN][1000 genomes]
rs7422753	0.93[ASN][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	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	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134425200-134431800	Weak transcription	HMEC	breast
2	chr2:134425200-134432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:134426800-134430400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:134428600-134430800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:134429000-134430000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:134429200-134430200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:134429400-134430200	Enhancers	Brain Hippocampus Middle	brain
8	chr2:134429600-134430600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:134429600-134430600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:134429600-134430600	Weak transcription	Fetal Heart	heart
11	chr2:134429600-134430600	Weak transcription	Fetal Lung	lung
12	chr2:134429600-134431400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:134429800-134430400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:134429800-134430600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:134429800-134430800	Weak transcription	Fetal Kidney	kidney
16	chr2:134429800-134431000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:134429800-134431000	Enhancers	Brain Cingulate Gyrus	brain

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