Variant report

Variant	rs72812691
Chromosome Location	chr5:178208877-178208878
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10038743	0.81[EUR][1000 genomes]
rs10041558	0.81[EUR][1000 genomes]
rs10041561	0.81[EUR][1000 genomes]
rs10044101	0.81[EUR][1000 genomes]
rs10455073	0.81[EUR][1000 genomes]
rs10455074	0.81[EUR][1000 genomes]
rs10455075	0.81[EUR][1000 genomes]
rs10455076	0.81[EUR][1000 genomes]
rs10455077	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12518917	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56394232	0.81[EUR][1000 genomes]
rs59612625	0.82[EUR][1000 genomes]
rs60286346	0.80[EUR][1000 genomes]
rs62393895	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62393896	0.81[EUR][1000 genomes]
rs62393901	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62393924	0.86[ASN][1000 genomes]
rs9329054	0.81[EUR][1000 genomes]
rs9329055	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv462573	chr5:178180299-178241495	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv600452	chr5:178180299-178241495	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178166600-178224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:178183400-178213200	Weak transcription	K562	blood
3	chr5:178206000-178212600	Weak transcription	A549	lung
4	chr5:178206400-178217600	Weak transcription	Gastric	stomach
5	chr5:178206600-178210400	Weak transcription	Pancreas	Pancrea
6	chr5:178206800-178210400	Weak transcription	Fetal Kidney	kidney
7	chr5:178207800-178210400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:178208200-178213200	Weak transcription	Esophagus	oesophagus

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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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