Variant report

Variant	rs7571272
Chromosome Location	chr2:128652728-128652729
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6708734	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568998	0.86[AFR][1000 genomes];0.97[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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv834367	chr2:128630791-128790072	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128645400-128659000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:128645800-128654000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:128645800-128655200	Weak transcription	K562	blood
4	chr2:128645800-128659000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:128646000-128653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:128646000-128654600	Weak transcription	Primary B cells from cord blood	blood
7	chr2:128646000-128658600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:128647400-128658600	Weak transcription	Fetal Stomach	stomach
9	chr2:128649800-128655200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:128649800-128655200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:128651200-128655400	Weak transcription	Right Ventricle	heart
12	chr2:128651400-128653000	Enhancers	HepG2	liver
13	chr2:128651400-128660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:128651800-128655000	Weak transcription	Liver	Liver
15	chr2:128652000-128659200	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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