Variant report

Variant	rs11930525
Chromosome Location	chr4:122669133-122669134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10001422	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10011665	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10470915	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10471016	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11937861	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11947643	0.89[EUR][1000 genomes]
rs1574283	1.00[EUR][1000 genomes]
rs17051397	0.88[EUR][1000 genomes]
rs17051398	0.90[EUR][1000 genomes]
rs28515183	1.00[EUR][1000 genomes]
rs28676474	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3903026	1.00[EUR][1000 genomes]
rs4077754	0.85[EUR][1000 genomes]
rs4309856	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4508913	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522884	0.90[EUR][1000 genomes]
rs4571354	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030020	0.81[EUR][1000 genomes]
rs56221685	0.87[EUR][1000 genomes]
rs57312551	0.95[EUR][1000 genomes]
rs58127039	0.97[EUR][1000 genomes]
rs59796939	0.90[EUR][1000 genomes]
rs61665948	0.85[EUR][1000 genomes]
rs6534322	0.86[EUR][1000 genomes]
rs6823340	0.87[EUR][1000 genomes]
rs6825926	0.81[EUR][1000 genomes]
rs6858061	0.87[EUR][1000 genomes]
rs72913994	1.00[EUR][1000 genomes]
rs72915905	0.89[EUR][1000 genomes]
rs73844293	0.87[EUR][1000 genomes]
rs73844294	0.87[EUR][1000 genomes]
rs7661218	0.87[EUR][1000 genomes]
rs7684547	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv508309	chr4:122663791-122680645	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122663400-122672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:122668800-122669200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
3	chr4:122668800-122669200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr4:122668800-122669200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:122668800-122669200	Enhancers	Gastric	stomach
6	chr4:122668800-122670000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:122668800-122670200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr4:122668800-122670200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr4:122668800-122670400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:122668800-122670400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:122669000-122670400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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