Variant report

Variant	rs10038280
Chromosome Location	chr5:75412129-75412130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10038757	0.94[EUR][1000 genomes]
rs10043369	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10050813	0.92[EUR][1000 genomes]
rs10054931	0.97[EUR][1000 genomes]
rs10063621	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10064145	0.97[EUR][1000 genomes]
rs10065114	0.97[EUR][1000 genomes]
rs10474460	0.97[EUR][1000 genomes]
rs12513411	0.85[EUR][1000 genomes]
rs12513447	0.89[EUR][1000 genomes]
rs12656979	0.87[EUR][1000 genomes]
rs12659929	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13160383	0.80[EUR][1000 genomes]
rs1553311	0.87[EUR][1000 genomes]
rs17673786	0.97[EUR][1000 genomes]
rs17746749	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1862520	0.97[EUR][1000 genomes]
rs28554027	0.86[EUR][1000 genomes]
rs6453199	0.97[EUR][1000 genomes]
rs7448740	0.92[EUR][1000 genomes]
rs767590	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700761	0.96[EUR][1000 genomes]
rs7702044	0.97[EUR][1000 genomes]
rs7711218	0.97[EUR][1000 genomes]
rs7712198	0.93[EUR][1000 genomes]
rs7725280	0.97[EUR][1000 genomes]
rs9293666	0.97[EUR][1000 genomes]
rs9293667	0.97[EUR][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv869885	chr5:75365786-75419656	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv2755729	chr5:75400467-75429015	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75409400-75412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:75410000-75412800	Enhancers	Stomach Mucosa	stomach
3	chr5:75410600-75412400	Weak transcription	Brain Anterior Caudate	brain
4	chr5:75411200-75412600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:75412000-75412200	Weak transcription	Rectal Mucosa Donor 31	rectum

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