Variant report

Variant	rs13119654
Chromosome Location	chr4:88239853-88239854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10004027	0.83[ASN][1000 genomes]
rs10012256	0.83[ASN][1000 genomes]
rs10028111	0.91[ASN][1000 genomes]
rs10028441	0.81[ASN][1000 genomes]
rs10050247	0.83[ASN][1000 genomes]
rs10433879	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10433937	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12649727	0.83[ASN][1000 genomes]
rs13118664	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130041	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433555	0.83[ASN][1000 genomes]
rs28445336	0.92[ASN][1000 genomes]
rs28599772	0.93[ASN][1000 genomes]
rs28636836	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28830804	0.91[ASN][1000 genomes]
rs57041248	0.91[ASN][1000 genomes]
rs57154655	0.83[ASN][1000 genomes]
rs58073039	0.81[ASN][1000 genomes]
rs59107493	0.83[ASN][1000 genomes]
rs6531981	0.81[ASN][1000 genomes]
rs66837437	0.95[ASN][1000 genomes]
rs7691791	0.81[ASN][1000 genomes]
rs9992651	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv879527	chr4:88194170-88250203	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv1802846	chr4:88211056-88246450	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv4412	chr4:88237813-88283368	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv293508	chr4:88238744-88241534	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr4:88229000-88245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:88230000-88240000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:88235200-88243800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:88235600-88241400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:88235800-88242600	Weak transcription	Adipose Nuclei	Adipose
6	chr4:88236800-88243200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:88238600-88253400	Weak transcription	HepG2	liver
8	chr4:88239400-88248000	Weak transcription	Fetal Intestine Small	intestine
9	chr4:88239400-88255400	Weak transcription	A549	lung
10	chr4:88239600-88240400	Weak transcription	Liver	Liver
11	chr4:88239800-88240200	Weak transcription	Hela-S3	cervix

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