Variant report

Variant	rs11249606
Chromosome Location	chr5:178399027-178399028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13184447	1.00[AMR][1000 genomes]
rs1353586	1.00[AMR][1000 genomes]
rs2047355	1.00[AMR][1000 genomes]
rs2856351	1.00[AMR][1000 genomes]
rs4700760	1.00[AMR][1000 genomes]
rs4700926	1.00[AMR][1000 genomes]
rs7711730	1.00[AMR][1000 genomes]
rs7731646	1.00[AMR][1000 genomes]
rs903988	1.00[AMR][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	nsv600489	chr5:178368096-178430375	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1017941	chr5:178384214-178427401	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv537974	chr5:178384214-178427401	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv883219	chr5:178390237-178454118	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv883220	chr5:178394717-178454118	ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
2	chr5:178389400-178400400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:178389400-178405200	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr5:178389800-178399600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:178389800-178400000	ZNF genes & repeats	Fetal Stomach	stomach
6	chr5:178395600-178400200	ZNF genes & repeats	Fetal Lung	lung
7	chr5:178396000-178402400	Weak transcription	Fetal Heart	heart
8	chr5:178396800-178400200	ZNF genes & repeats	Ovary	ovary
9	chr5:178397400-178399400	Weak transcription	Right Ventricle	heart
10	chr5:178397400-178409200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:178398000-178400000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:178398000-178409000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr5:178398200-178399400	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:178398200-178399600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:178398200-178403800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:178398400-178399200	Weak transcription	Liver	Liver
17	chr5:178398400-178399400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:178398400-178399400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:178398600-178399200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:178398600-178399400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:178399000-178404600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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