Variant report

Variant	rs5998422
Chromosome Location	chr22:32731917-32731918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28681514	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28722519	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998421	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998423	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239301	0.80[AMR][1000 genomes]
rs62239302	0.80[AMR][1000 genomes]
rs62239304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239308	0.80[AMR][1000 genomes]
rs62239309	0.80[AMR][1000 genomes]
rs62239310	0.80[AMR][1000 genomes]
rs62239328	0.80[AMR][1000 genomes]
rs62239330	0.80[AMR][1000 genomes]
rs732885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv3321885	chr22:32727952-32732150	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32728400-32732000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32728400-32732200	Weak transcription	HUVEC	blood vessel
3	chr22:32729400-32732600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:32730200-32733200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr22:32730400-32732200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:32730800-32732200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr22:32730800-32734600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:32731000-32732000	Weak transcription	Fetal Brain Female	brain
9	chr22:32731000-32733200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr22:32731000-32737200	Weak transcription	Right Atrium	heart
11	chr22:32731000-32737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32731200-32732800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:32731200-32734600	Weak transcription	Left Ventricle	heart
14	chr22:32731400-32733400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr22:32731600-32733200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:32731800-32732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:32731800-32732800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr22:32731800-32732800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr22:32731800-32733200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:32731800-32733600	Enhancers	Fetal Muscle Leg	muscle
21	chr22:32731800-32734000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr22:32731800-32734400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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