Variant report

Variant	rs4437057
Chromosome Location	chr22:27839923-27839924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56363846	1.00[EUR][1000 genomes]
rs5997250	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997254	0.92[EUR][1000 genomes]
rs6005440	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005443	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61680595	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718706	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158492	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158493	0.85[EUR][1000 genomes]
rs73158499	0.92[EUR][1000 genomes]
rs73158500	0.92[EUR][1000 genomes]
rs73158501	0.92[EUR][1000 genomes]
rs73160503	0.92[EUR][1000 genomes]
rs73160506	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160509	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160510	0.92[EUR][1000 genomes]
rs879342	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27829600-27844000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:27832800-27843400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:27832800-27844000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:27833800-27840200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:27835000-27841800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:27835800-27840200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:27837200-27840200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:27837400-27840000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr22:27837400-27840000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr22:27837400-27840200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:27837400-27840200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:27837800-27840200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr22:27838400-27840200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27838800-27840000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:27839000-27840200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr22:27839000-27843800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:27839400-27843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:27839600-27843200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:27839800-27840000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:27839800-27844000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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