Variant report

Variant	rs73077745
Chromosome Location	chr1:212774516-212774517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212751384..212755083-chr1:212773324..212775569,3	K562	blood:
2	chr1:212773503..212776143-chr1:212780610..212782383,2	MCF-7	breast:
3	chr1:212730785..212733184-chr1:212772727..212775434,2	K562	blood:

Variant related genes	Relation type
ENSG00000260805	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11571524	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571533	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571535	1.00[AMR][1000 genomes]
rs11571558	1.00[AMR][1000 genomes]
rs3001261	1.00[AMR][1000 genomes]
rs58103452	1.00[AMR][1000 genomes]
rs58411510	1.00[AMR][1000 genomes]
rs58475088	1.00[AMR][1000 genomes]
rs60028272	1.00[AMR][1000 genomes]
rs61531628	1.00[AMR][1000 genomes]
rs73075890	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	1.00[AMR][1000 genomes]
rs73077743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077750	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077765	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077787	1.00[AMR][1000 genomes]
rs73077796	1.00[AMR][1000 genomes]
rs73077801	1.00[AMR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73079819	1.00[AMR][1000 genomes]
rs73079839	1.00[AMR][1000 genomes]
rs73079842	1.00[AMR][1000 genomes]
rs73079854	1.00[AMR][1000 genomes]
rs73079874	1.00[AMR][1000 genomes]
rs73079900	1.00[AMR][1000 genomes]
rs73081820	1.00[AMR][1000 genomes]
rs73081821	1.00[AMR][1000 genomes]
rs73081838	1.00[AMR][1000 genomes]
rs73081848	1.00[AMR][1000 genomes]
rs73081859	1.00[AMR][1000 genomes]
rs73081865	1.00[AMR][1000 genomes]
rs73081874	1.00[AMR][1000 genomes]
rs73081896	1.00[AMR][1000 genomes]
rs73083716	1.00[AMR][1000 genomes]
rs73083720	1.00[AMR][1000 genomes]
rs73083723	1.00[AMR][1000 genomes]
rs73088535	1.00[AMR][1000 genomes]
rs73088538	1.00[AMR][1000 genomes]
rs73088542	1.00[AMR][1000 genomes]
rs73088546	1.00[AMR][1000 genomes]
rs73090557	1.00[AMR][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212770200-212778600	Weak transcription	Aorta	Aorta
2	chr1:212771000-212778200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212771200-212779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:212773400-212775000	Enhancers	Hela-S3	cervix
5	chr1:212773600-212774600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:212773600-212774800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:212773600-212775000	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr1:212773800-212774800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:212773800-212774800	Enhancers	HMEC	breast
10	chr1:212773800-212774800	Enhancers	NHEK	skin
11	chr1:212774200-212774600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:212774200-212774800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:212774200-212774800	Bivalent Enhancer	Osteobl	bone
14	chr1:212774200-212778000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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