Variant report

Variant	rs1483746
Chromosome Location	chr4:96308573-96308574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10222858	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10440376	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351770	0.96[ASN][1000 genomes]
rs1384862	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1483744	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856205	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9998018	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001955	chr4:96216118-96445841	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96285200-96334600	Weak transcription	Aorta	Aorta
2	chr4:96296400-96316000	Weak transcription	Fetal Kidney	kidney
3	chr4:96299000-96310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:96303200-96309600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:96304200-96311600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:96304200-96323000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:96304200-96333000	Weak transcription	Fetal Lung	lung
8	chr4:96305800-96317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:96306000-96309000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:96306200-96314200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:96306600-96315400	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:96306800-96310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:96308400-96310000	Enhancers	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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