Variant report

Variant	rs37780
Chromosome Location	chr5:52634586-52634587
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	chr5:52634537..52635379-chr5:52772608..52773561,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12188879	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs252045	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs37796	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42970	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4541613	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4865766	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4865767	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4865768	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4865769	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active 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	nsv1020388	chr5:52607736-52637122	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1016368	chr5:52607736-52640986	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1027244	chr5:52631507-52644776	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52626000-52640000	Enhancers	HMEC	breast
2	chr5:52631400-52634600	Weak transcription	Aorta	Aorta
3	chr5:52631600-52634800	Weak transcription	Hela-S3	cervix
4	chr5:52631600-52635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:52631600-52635800	Weak transcription	Osteobl	bone
6	chr5:52631600-52639000	Weak transcription	HSMM	muscle
7	chr5:52632000-52635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:52632000-52636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:52633800-52635400	Flanking Active TSS	NHEK	skin
10	chr5:52634000-52639600	Weak transcription	Esophagus	oesophagus
11	chr5:52634200-52634600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:52634200-52634800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:52634200-52635600	Weak transcription	NHDF-Ad	bronchial
14	chr5:52634200-52635600	Weak transcription	NHLF	lung
15	chr5:52634200-52635800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:52634200-52635800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:52634200-52639000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:52634400-52634800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:52634400-52635600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:52634400-52635800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:52634400-52636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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