Variant report

Variant	rs3020121
Chromosome Location	chr8:118010780-118010781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1505525	0.98[EUR][1000 genomes]
rs1995581	0.97[EUR][1000 genomes]
rs2047963	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2047964	0.98[EUR][1000 genomes]
rs2938861	0.94[EUR][1000 genomes]
rs2938863	0.96[EUR][1000 genomes]
rs2938864	0.98[EUR][1000 genomes]
rs3019879	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019880	0.86[EUR][1000 genomes]
rs3019883	0.93[EUR][1000 genomes]
rs3019884	0.93[EUR][1000 genomes]
rs3019885	0.92[EUR][1000 genomes]
rs3019890	0.98[EUR][1000 genomes]
rs3020122	0.98[EUR][1000 genomes]
rs4242567	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv6360	chr8:118005370-118030914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1800268	chr8:118007295-118021671	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118008200-118011600	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:118009400-118011400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:118009600-118011600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:118010400-118014400	Weak transcription	Fetal Heart	heart
5	chr8:118010600-118011600	Weak transcription	Fetal Stomach	stomach
6	chr8:118010600-118012200	Weak transcription	Rectal Smooth Muscle	rectum

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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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