Variant report

Variant	rs10471379
Chromosome Location	chr5:52658588-52658589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52653991..52656439-chr5:52656965..52659829,2	MCF-7	breast:
2	chr5:52642800..52645145-chr5:52658314..52660881,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12658752	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153128	0.81[ASN][1000 genomes]
rs251523	0.81[ASN][1000 genomes]
rs252036	0.82[ASN][1000 genomes]
rs252037	0.82[ASN][1000 genomes]
rs252039	0.82[ASN][1000 genomes]
rs252046	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28088	0.81[ASN][1000 genomes]
rs37775	0.82[ASN][1000 genomes]
rs37779	0.87[ASN][1000 genomes]
rs37781	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs37782	0.96[ASN][1000 genomes]
rs37784	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs38049	0.82[ASN][1000 genomes]
rs40229	0.82[ASN][1000 genomes]
rs420035	0.81[ASN][1000 genomes]
rs73754209	0.82[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	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	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52654200-52662800	Enhancers	NHDF-Ad	bronchial
2	chr5:52654600-52658600	Enhancers	NHLF	lung
3	chr5:52654600-52660600	Enhancers	HSMM	muscle
4	chr5:52654600-52660800	Enhancers	Hela-S3	cervix
5	chr5:52654600-52660800	Enhancers	HMEC	breast
6	chr5:52654600-52662600	Enhancers	Osteobl	bone
7	chr5:52654800-52658600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:52655000-52659800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:52655000-52662000	Enhancers	NHEK	skin
10	chr5:52655400-52661000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:52655600-52659200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:52656000-52658600	Enhancers	HSMMtube	muscle
13	chr5:52656400-52659600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:52656600-52660000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:52656600-52662600	Enhancers	HUVEC	blood vessel
16	chr5:52657800-52659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:52657800-52661000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:52658200-52659200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:52658200-52660200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:52658400-52658600	Flanking Active TSS	A549	lung
21	chr5:52658400-52658800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:52658400-52659200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:52658400-52659200	Weak transcription	NH-A	brain

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