Variant report

Variant	rs330338
Chromosome Location	chr5:124910047-124910048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10434773	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10434774	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608114	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608115	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330336	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs330337	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330341	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs330343	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs330344	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs330350	0.87[AMR][1000 genomes]
rs330352	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs330353	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs330355	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs330356	0.87[AMR][1000 genomes]
rs331716	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs331720	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs331721	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68142408	0.83[AMR][1000 genomes]
rs6896312	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882827	chr5:124867823-124943901	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv882828	chr5:124867823-124958205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv4986	chr5:124899753-124944916	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124904200-124910200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:124908400-124912000	Enhancers	Fetal Heart	heart
3	chr5:124908600-124911400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:124908600-124911400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:124908600-124911400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:124908800-124912200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:124908800-124912800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:124908800-124914800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:124909000-124910200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:124909000-124910400	Weak transcription	Fetal Lung	lung
11	chr5:124909000-124911600	Enhancers	Brain Germinal Matrix	brain
12	chr5:124909200-124910200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:124909200-124910200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:124909200-124910400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:124909200-124911400	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:124909200-124912800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:124909200-124912800	Enhancers	Brain Substantia Nigra	brain
18	chr5:124909600-124911400	Enhancers	Brain Hippocampus Middle	brain
19	chr5:124909600-124911600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:124909600-124911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:124909800-124911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:124909800-124912200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:124910000-124912200	Enhancers	Fetal Brain Male	brain
24	chr5:124910000-124912800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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