Variant report

Variant	rs383406
Chromosome Location	chr11:49200881-49200882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1164674	0.94[AFR][1000 genomes]
rs1164679	1.00[AFR][1000 genomes]
rs1164683	0.86[AFR][1000 genomes]
rs1164684	0.86[AFR][1000 genomes]
rs149894	0.94[AFR][1000 genomes]
rs202679	0.93[AFR][1000 genomes]
rs202688	0.86[AFR][1000 genomes]
rs202697	1.00[AFR][1000 genomes]
rs202708	1.00[AFR][1000 genomes]
rs202709	1.00[AFR][1000 genomes]
rs2204365	1.00[AFR][1000 genomes]
rs3853613	0.86[AFR][1000 genomes]
rs647002	1.00[AFR][1000 genomes]
rs7924402	1.00[AFR][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:8 , 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	chr11:49185600-49201800	Weak transcription	Fetal Lung	lung
3	chr11:49186800-49204200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:49194600-49205200	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:49197000-49206400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:49197800-49208400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:49199800-49201200	Weak transcription	Liver	Liver
8	chr11:49199800-49204000	Weak transcription	Fetal Intestine Large	intestine

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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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