Variant report

Variant	rs73000317
Chromosome Location	chr3:141487411-141487412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11918543	0.92[AMR][1000 genomes]
rs11923877	1.00[ASN][1000 genomes]
rs11927353	0.92[AMR][1000 genomes]
rs60059388	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6765025	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6777399	0.85[AMR][1000 genomes]
rs6785010	0.92[AMR][1000 genomes]
rs6785106	0.92[AMR][1000 genomes]
rs72998395	0.85[AMR][1000 genomes]
rs72998398	0.92[AMR][1000 genomes]
rs73872314	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7626358	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141461800-141498200	Weak transcription	Right Ventricle	heart
2	chr3:141472000-141500800	Weak transcription	Thymus	Thymus
3	chr3:141482400-141488200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:141483400-141487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:141483400-141488000	Weak transcription	K562	blood
6	chr3:141484200-141488000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:141484600-141487600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:141486800-141488000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:141486800-141488000	Enhancers	Lung	lung
10	chr3:141487200-141497200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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