Variant report

Variant	rs1684260
Chromosome Location	chr11:49224231-49224232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10742932	0.86[ASN][1000 genomes]
rs10839234	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10839236	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299645	0.84[ASN][1000 genomes]
rs2299647	0.84[ASN][1000 genomes]
rs2299648	0.82[ASN][1000 genomes]
rs2299650	0.86[ASN][1000 genomes]
rs2734002	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2988340	0.82[ASN][1000 genomes]
rs34647977	0.84[EUR][1000 genomes]
rs3872563	0.86[ASN][1000 genomes]
rs3872578	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3974730	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4315497	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4929895	0.83[EUR][1000 genomes]
rs588458	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs609280	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs625442	0.85[AMR][1000 genomes]
rs6485965	0.83[ASN][1000 genomes]
rs652655	0.86[EUR][1000 genomes]
rs685789	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7106301	0.83[EUR][1000 genomes]
rs9651571	0.82[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:13 , 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	chr11:49222200-49229400	Weak transcription	Fetal Stomach	stomach
5	chr11:49223200-49224400	Enhancers	Liver	Liver
6	chr11:49223800-49224400	Enhancers	Brain Substantia Nigra	brain
7	chr11:49224000-49224400	Enhancers	Brain Anterior Caudate	brain
8	chr11:49224000-49224400	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:49224000-49224600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr11:49224000-49226200	Enhancers	Brain Hippocampus Middle	brain
11	chr11:49224000-49226200	Strong transcription	Fetal Intestine Large	intestine
12	chr11:49224200-49228200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:49224200-49228200	Weak transcription	Brain Inferior Temporal Lobe	brain

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