Variant report

Variant	rs72630553
Chromosome Location	chr8:39851305-39851306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1421215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888530	0.82[ASN][1000 genomes]
rs72630544	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72630546	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72630551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39843000-39853000	Weak transcription	Lung	lung
3	chr8:39847600-39851400	Enhancers	Colon Smooth Muscle	Colon
4	chr8:39847600-39853600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:39847800-39854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:39849000-39853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:39849600-39851400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:39849800-39853600	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
10	chr8:39851200-39851400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:39851200-39851400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:39851200-39853600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:39851200-39853600	Weak transcription	A549	lung

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Input of quick search could be:

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

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