Variant report

Variant	rs17165038
Chromosome Location	chr5:126692337-126692338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17165037	0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs55900385	0.83[AMR][1000 genomes]
rs56217196	0.83[AMR][1000 genomes]
rs73344962	0.95[AFR][1000 genomes]
rs73344963	0.95[AFR][1000 genomes]
rs73344964	0.93[AFR][1000 genomes]
rs73344966	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126679200-126694000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:126681400-126693400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:126681800-126693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:126681800-126693600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:126687800-126693800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:126688400-126692400	Enhancers	Fetal Muscle Leg	muscle
7	chr5:126688400-126692600	Enhancers	Brain Angular Gyrus	brain
8	chr5:126688400-126692600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:126689600-126692800	Enhancers	HSMMtube	muscle
10	chr5:126689600-126693800	Enhancers	HSMM	muscle
11	chr5:126689800-126694200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:126691400-126693000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:126691400-126693400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:126691400-126693400	Weak transcription	Brain Substantia Nigra	brain
16	chr5:126691400-126693600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:126691600-126693000	Weak transcription	Brain Anterior Caudate	brain
18	chr5:126691600-126693200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:126691600-126694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:126692000-126694800	Weak transcription	Fetal Brain Male	brain
21	chr5:126692200-126693400	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:126692200-126693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:126692200-126704800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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