Variant report

Variant	rs58427200
Chromosome Location	chr22:28862474-28862475
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12157518	0.95[ASN][1000 genomes]
rs12159502	0.82[EUR][1000 genomes]
rs16986290	0.90[ASN][1000 genomes]
rs16986377	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986462	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986548	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35731009	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997355	0.86[ASN][1000 genomes]
rs5997363	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997365	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997367	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997369	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997372	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005751	0.95[ASN][1000 genomes]
rs6005757	0.86[ASN][1000 genomes]
rs6005758	0.95[ASN][1000 genomes]
rs6005765	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005779	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005780	0.91[EUR][1000 genomes]
rs6005783	0.91[EUR][1000 genomes]
rs6005789	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005793	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005829	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6005833	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005834	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73428082	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73428096	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430108	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28860000-28862600	Enhancers	Fetal Kidney	kidney
2	chr22:28860000-28863000	Enhancers	Fetal Intestine Large	intestine
3	chr22:28860000-28863400	Enhancers	Fetal Intestine Small	intestine
4	chr22:28860400-28866000	Weak transcription	Fetal Stomach	stomach
5	chr22:28860600-28862600	Enhancers	Duodenum Mucosa	Duodenum
6	chr22:28861200-28863200	Enhancers	Fetal Brain Male	brain
7	chr22:28861400-28875800	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:28861600-28880200	Weak transcription	Ovary	ovary
9	chr22:28861800-28862800	Enhancers	Fetal Brain Female	brain
10	chr22:28862000-28869800	Weak transcription	Small Intestine	intestine
11	chr22:28862200-28862600	Enhancers	Brain Germinal Matrix	brain
12	chr22:28862400-28862800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr22:28862400-28862800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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