Variant report

Variant	rs1382330
Chromosome Location	chr5:126982856-126982857
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10041386	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10041400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10478778	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13175595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28463917	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28466271	0.89[ASN][1000 genomes]
rs28527369	0.89[ASN][1000 genomes]
rs3851477	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3911929	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3958853	0.81[AMR][1000 genomes]
rs55681581	0.89[ASN][1000 genomes]
rs6595783	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6865264	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6870400	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6870457	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337180	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708938	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7722896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9327447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv599663	chr5:126972005-126991456	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv599664	chr5:126974071-127016256	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126979600-126984600	Weak transcription	Fetal Brain Male	brain
2	chr5:126979600-126985400	Weak transcription	Ovary	ovary
3	chr5:126979800-126983400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:126980000-126983000	Weak transcription	HSMMtube	muscle
5	chr5:126981000-126988800	Enhancers	Colon Smooth Muscle	Colon
6	chr5:126981400-126984400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:126981600-126987000	Enhancers	Fetal Stomach	stomach
8	chr5:126981600-126987000	Enhancers	Stomach Smooth Muscle	stomach
9	chr5:126981800-126984000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:126981800-126987000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:126982000-126983600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:126982000-126983800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:126982000-126984000	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:126982000-126984600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:126982200-126983200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:126982200-126985600	Weak transcription	Psoas Muscle	Psoas
17	chr5:126982600-126983600	Enhancers	Muscle Satellite Cultured Cells	--

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