Variant report

Variant	rs182169
Chromosome Location	chr11:49207315-49207316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs202680	0.91[AMR][1000 genomes]
rs202690	0.81[ASN][1000 genomes]
rs202691	0.80[ASN][1000 genomes]
rs202692	0.83[ASN][1000 genomes]
rs202707	0.82[ASN][1000 genomes]
rs202710	0.82[ASN][1000 genomes]
rs202716	0.90[ASN][1000 genomes]
rs202717	0.82[ASN][1000 genomes]
rs429352	0.80[ASN][1000 genomes]
rs596712	0.83[ASN][1000 genomes]
rs644754	0.82[ASN][1000 genomes]
rs664584	0.82[ASN][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	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1044070	chr11:49147743-49448774	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv525454	chr11:49156039-49570587	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv518571	chr11:49162948-49627833	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv972015	chr11:49187522-49240719	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49184800-49208400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:49197800-49208400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:49202600-49229400	Weak transcription	Fetal Lung	lung
4	chr11:49204600-49226200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:49205400-49208800	Enhancers	Liver	Liver
6	chr11:49206400-49208400	Enhancers	Fetal Intestine Large	intestine
7	chr11:49206600-49209600	Enhancers	Brain Hippocampus Middle	brain
8	chr11:49206600-49210800	Weak transcription	Brain Anterior Caudate	brain
9	chr11:49206600-49212600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:49206600-49212800	Weak transcription	Brain Angular Gyrus	brain
11	chr11:49207000-49208400	Enhancers	Fetal Intestine Small	intestine
12	chr11:49207000-49229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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