Variant report

Variant	rs5752754
Chromosome Location	chr22:28925542-28925543
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10222318	0.82[EUR][1000 genomes]
rs12165893	0.82[EUR][1000 genomes]
rs12166245	0.82[EUR][1000 genomes]
rs12166475	0.82[EUR][1000 genomes]
rs12167532	0.85[EUR][1000 genomes]
rs12168031	0.81[EUR][1000 genomes]
rs12168765	0.82[EUR][1000 genomes]
rs12169460	0.82[EUR][1000 genomes]
rs12169880	0.82[EUR][1000 genomes]
rs134547	0.83[EUR][1000 genomes]
rs16986398	0.83[EUR][1000 genomes]
rs2013784	0.88[EUR][1000 genomes]
rs2144922	0.88[EUR][1000 genomes]
rs2881496	0.88[EUR][1000 genomes]
rs28818228	0.82[EUR][1000 genomes]
rs58049055	0.82[EUR][1000 genomes]
rs58542867	0.81[EUR][1000 genomes]
rs6005809	0.88[EUR][1000 genomes]
rs60065194	0.82[EUR][1000 genomes]
rs60248971	0.82[EUR][1000 genomes]
rs60693420	0.82[EUR][1000 genomes]
rs6519758	0.82[EUR][1000 genomes]
rs7288792	0.82[EUR][1000 genomes]
rs7289534	0.82[EUR][1000 genomes]
rs7289625	0.84[EUR][1000 genomes]
rs7293232	0.82[EUR][1000 genomes]
rs73430118	0.85[EUR][1000 genomes]
rs73430179	0.82[EUR][1000 genomes]
rs73432205	0.82[EUR][1000 genomes]
rs8136767	0.82[EUR][1000 genomes]
rs8136995	0.82[EUR][1000 genomes]
rs9620808	0.80[EUR][1000 genomes]
rs9620810	0.82[EUR][1000 genomes]
rs9620811	0.82[EUR][1000 genomes]
rs9625498	0.85[EUR][1000 genomes]
rs9625509	0.81[EUR][1000 genomes]
rs9625512	0.82[EUR][1000 genomes]
rs9625513	0.82[EUR][1000 genomes]
rs9625514	0.82[EUR][1000 genomes]
rs9625518	0.82[EUR][1000 genomes]
rs9625520	0.82[EUR][1000 genomes]
rs9625521	0.82[EUR][1000 genomes]
rs9625522	0.80[EUR][1000 genomes]
rs9625523	0.82[EUR][1000 genomes]
rs9625524	0.82[EUR][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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 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	chr22:28916600-28935800	Weak transcription	Fetal Lung	lung
2	chr22:28916600-28937200	Weak transcription	HepG2	liver
3	chr22:28917600-28943200	Weak transcription	Left Ventricle	heart
4	chr22:28918000-28926000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:28918000-28928400	Weak transcription	Ovary	ovary
6	chr22:28923400-28940400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:28923800-28926000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:28924000-28927400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:28924400-28926000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:28924800-28926000	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr22:28924800-28926200	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr22:28925200-28925600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:28925200-28926000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr22:28925400-28926200	ZNF genes & repeats	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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