Variant report

Variant	rs331770
Chromosome Location	chr5:124836017-124836018
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs331692	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331697	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331700	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331702	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331759	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs331760	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331761	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331762	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331763	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs331764	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs331766	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs331767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs331769	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:124823400-124860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124827800-124843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:124828000-124837000	Weak transcription	HSMM	muscle
4	chr5:124833000-124837800	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:124833000-124837800	Enhancers	Brain Hippocampus Middle	brain
6	chr5:124833800-124836400	Enhancers	Brain Anterior Caudate	brain
7	chr5:124834400-124837800	Enhancers	Brain Angular Gyrus	brain
8	chr5:124834400-124837800	Enhancers	Brain Germinal Matrix	brain
9	chr5:124834400-124838200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:124834400-124838200	Enhancers	Brain Substantia Nigra	brain
11	chr5:124835000-124836200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:124835000-124837200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:124835000-124837800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:124835200-124836400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:124835200-124837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:124835400-124836400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:124835400-124837600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:124835600-124836200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:124835600-124836200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:124835600-124837400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:124836000-124836200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:124836000-124836800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:124836000-124837400	Weak transcription	HSMMtube	muscle

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