Variant report

Variant	rs1519223
Chromosome Location	chr22:27719479-27719480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16984247	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs483594	0.90[ASN][1000 genomes]
rs497150	0.81[JPT][hapmap]
rs56368280	0.90[ASN][1000 genomes]
rs61636204	0.89[ASN][1000 genomes]
rs84312	0.81[JPT][hapmap]
rs9620681	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs980077	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs980078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][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	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	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27715000-27719600	Weak transcription	Ovary	ovary
2	chr22:27715200-27727400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:27718200-27722000	Enhancers	Fetal Brain Male	brain
4	chr22:27718600-27720200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:27718800-27719600	Bivalent Enhancer	Fetal Stomach	stomach
6	chr22:27719000-27721400	Enhancers	Fetal Brain Female	brain
7	chr22:27719200-27719600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr22:27719200-27719800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr22:27719200-27719800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:27719200-27719800	Enhancers	Spleen	Spleen
11	chr22:27719200-27720200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:27719200-27720200	Bivalent Enhancer	Fetal Lung	lung
13	chr22:27719200-27720400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:27719400-27719800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr22:27719400-27720000	Enhancers	Brain Germinal Matrix	brain
16	chr22:27719400-27720000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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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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