Variant report

Variant	rs202696
Chromosome Location	chr11:49217614-49217615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10839230	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10839248	0.82[ASN][1000 genomes]
rs11040261	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11040289	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11826051	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11827867	0.81[ASN][1000 genomes]
rs12221758	0.80[ASN][1000 genomes]
rs12271751	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs191862	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202672	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202673	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202681	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202687	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202689	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202695	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs202698	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202701	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202705	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202713	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202719	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202724	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2200497	0.80[ASN][1000 genomes]
rs2903253	0.80[ASN][1000 genomes]
rs369803	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4373925	0.80[ASN][1000 genomes]
rs58846727	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs595139	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs596754	0.85[ASN][1000 genomes]
rs597683	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs600974	0.85[ASN][1000 genomes]
rs611931	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs613429	0.82[ASN][1000 genomes]
rs613450	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs628194	0.85[ASN][1000 genomes]
rs636059	0.85[ASN][1000 genomes]
rs6485971	0.81[ASN][1000 genomes]
rs648728	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs650826	0.85[ASN][1000 genomes]
rs651278	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689329	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7935256	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv2758269	chr11:49212237-49468966	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2759825	chr11:49212237-49468966	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1834726	chr11:49215288-49242990	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island	1 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	chr11:49202600-49229400	Weak transcription	Fetal Lung	lung
2	chr11:49204600-49226200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:49207000-49229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:49208800-49221200	Weak transcription	Liver	Liver
5	chr11:49211200-49223200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:49211200-49223200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:49217600-49219600	Enhancers	Fetal Intestine Small	intestine
8	chr11:49217600-49220800	Weak transcription	Fetal Intestine Large	intestine

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