Variant report

Variant	rs73344966
Chromosome Location	chr5:126691169-126691170
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519949	1.00[EUR][1000 genomes]
rs12654455	1.00[EUR][1000 genomes]
rs17165037	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17165038	0.95[AFR][1000 genomes]
rs17684438	1.00[EUR][1000 genomes]
rs17684525	1.00[EUR][1000 genomes]
rs17762857	1.00[EUR][1000 genomes]
rs17762863	1.00[EUR][1000 genomes]
rs73344962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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:27 , 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	chr5:126688200-126691400	Enhancers	Brain Substantia Nigra	brain
7	chr5:126688200-126692200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:126688400-126691400	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:126688400-126692400	Enhancers	Fetal Muscle Leg	muscle
10	chr5:126688400-126692600	Enhancers	Brain Angular Gyrus	brain
11	chr5:126688400-126692600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:126689000-126691400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:126689000-126692200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:126689400-126692200	Enhancers	Brain Hippocampus Middle	brain
15	chr5:126689600-126692800	Enhancers	HSMMtube	muscle
16	chr5:126689600-126693800	Enhancers	HSMM	muscle
17	chr5:126689800-126694200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:126690000-126692000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:126690200-126692000	Enhancers	Fetal Brain Male	brain
20	chr5:126690400-126691200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:126690400-126691200	Enhancers	Brain Germinal Matrix	brain
22	chr5:126690600-126691400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:126690800-126691400	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr5:126690800-126691600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:126691000-126691400	Flanking Active TSS	Fetal Brain Female	brain
26	chr5:126691000-126692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle

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