Variant report

Variant	rs481258
Chromosome Location	chr22:27568117-27568118
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1108750	0.82[ASN][1000 genomes]
rs1519222	1.00[ASN][1000 genomes]
rs6005319	0.91[ASN][1000 genomes]
rs760523	0.82[ASN][1000 genomes]
rs849453	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv459861	chr22:27549141-27575542	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv588873	chr22:27549141-27575542	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2762118	chr22:27549920-27579317	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv459863	chr22:27550764-27575542	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv588874	chr22:27550764-27575542	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1063215	chr22:27557040-27581253	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1949407	chr22:27568117-27568118	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27557200-27569800	Weak transcription	Fetal Brain Female	brain
2	chr22:27566600-27570600	Weak transcription	Spleen	Spleen
3	chr22:27566800-27568400	Weak transcription	HUVEC	blood vessel
4	chr22:27566800-27571200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:27567000-27570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:27567000-27570600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:27567200-27569800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:27567200-27569800	Weak transcription	HSMMtube	muscle
9	chr22:27567200-27570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:27567200-27572600	Weak transcription	Ovary	ovary
11	chr22:27567400-27569800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:27567800-27569600	Weak transcription	Brain Germinal Matrix	brain
13	chr22:27567800-27570600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:27567800-27571400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:27568000-27570600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:27568000-27570800	Weak transcription	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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