Variant report

Variant	rs73394876
Chromosome Location	chr22:30263086-30263087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs16988115	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988122	1.00[AMR][1000 genomes]
rs16988151	1.00[AMR][1000 genomes]
rs28647168	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56733052	1.00[AMR][1000 genomes]
rs57258477	1.00[AMR][1000 genomes]
rs57724305	1.00[AMR][1000 genomes]
rs58255360	1.00[AMR][1000 genomes]
rs58952888	0.83[AMR][1000 genomes]
rs5997540	1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006297	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006301	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006309	1.00[AMR][1000 genomes]
rs6006317	1.00[AMR][1000 genomes]
rs6006318	1.00[AMR][1000 genomes]
rs6006331	1.00[AMR][1000 genomes]
rs60245742	1.00[AMR][1000 genomes]
rs61043203	1.00[AMR][1000 genomes]
rs61191536	1.00[AMR][1000 genomes]
rs61540772	1.00[AMR][1000 genomes]
rs73394851	1.00[AMR][1000 genomes]
rs73394860	1.00[AMR][1000 genomes]
rs73394861	1.00[AMR][1000 genomes]
rs73394863	1.00[AMR][1000 genomes]
rs73396842	1.00[AMR][1000 genomes]
rs73396845	1.00[AMR][1000 genomes]
rs73398604	1.00[AMR][1000 genomes]
rs73398637	1.00[AMR][1000 genomes]
rs73398640	1.00[AMR][1000 genomes]
rs73398663	1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	1.00[AMR][1000 genomes]
rs73400648	1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30258200-30267600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30258400-30263200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr22:30258400-30263400	Weak transcription	Fetal Heart	heart
4	chr22:30258400-30263600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:30260000-30263400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:30261200-30265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:30263000-30263800	Enhancers	NHEK	skin

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