Variant report

Variant	rs170333
Chromosome Location	chr5:146229886-146229887
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10056455	0.89[EUR][1000 genomes]
rs1125728	1.00[MEX][hapmap]
rs1480156	1.00[GIH][hapmap]
rs319143	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146213200-146245200	Weak transcription	Aorta	Aorta
2	chr5:146215200-146236000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:146216400-146245200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:146216600-146232200	Weak transcription	Brain Substantia Nigra	brain
5	chr5:146219600-146240000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:146219800-146231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:146220200-146236200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:146221000-146249200	Weak transcription	Fetal Brain Female	brain
9	chr5:146224800-146230800	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:146226600-146231800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:146227200-146231200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:146227200-146232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:146228400-146232200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:146228600-146230200	Weak transcription	Liver	Liver
15	chr5:146229000-146230200	Enhancers	Brain Anterior Caudate	brain
16	chr5:146229400-146230200	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:146229600-146230200	Enhancers	Brain Angular Gyrus	brain
18	chr5:146229600-146230400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:146229600-146230800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:146229600-146231400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:146229800-146230800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:146229800-146231800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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