Variant report

Variant	rs73400633
Chromosome Location	chr22:30444173-30444174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs16988115	1.00[AMR][1000 genomes]
rs16988122	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988151	1.00[AMR][1000 genomes]
rs28647168	1.00[AMR][1000 genomes]
rs56733052	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57258477	1.00[AMR][1000 genomes]
rs57724305	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58255360	1.00[AMR][1000 genomes]
rs58952888	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59580785	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997540	1.00[AMR][1000 genomes]
rs5997565	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006297	1.00[AMR][1000 genomes]
rs6006299	1.00[AMR][1000 genomes]
rs6006301	1.00[AMR][1000 genomes]
rs6006309	1.00[AMR][1000 genomes]
rs6006317	1.00[AMR][1000 genomes]
rs6006318	1.00[AMR][1000 genomes]
rs6006331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245742	1.00[AMR][1000 genomes]
rs60964812	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61043203	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61191536	0.97[AFR][1000 genomes];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]
rs73394876	1.00[AMR][1000 genomes]
rs73396842	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396845	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398604	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398637	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398640	1.00[AMR][1000 genomes]
rs73398663	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400675	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402619	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402640	1.00[AMR][1000 genomes]
rs73402644	1.00[AMR][1000 genomes]
rs73402647	1.00[AMR][1000 genomes]
rs73402653	1.00[AMR][1000 genomes]
rs73402667	1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv964619	chr22:30440663-30444496	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3366248	chr22:30443364-30448009	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3455785	chr22:30443411-30447963	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3455787	chr22:30443419-30447983	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3455788	chr22:30443419-30447983	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3398834	chr22:30443518-30448046	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:30435000-30450600	Weak transcription	Gastric	stomach
4	chr22:30438200-30448200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:30440800-30444400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:30441000-30444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:30441200-30444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:30441400-30450600	Weak transcription	Adipose Nuclei	Adipose
9	chr22:30443000-30444200	Flanking Active TSS	Dnd41	blood
10	chr22:30443000-30444800	Enhancers	Fetal Intestine Small	intestine
11	chr22:30443000-30446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:30443000-30449400	Weak transcription	HepG2	liver
13	chr22:30443400-30444200	Enhancers	Fetal Intestine Large	intestine
14	chr22:30443400-30445000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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