Variant report

Variant	rs72993530
Chromosome Location	chr6:145532440-145532441
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1972364	1.00[ASN][1000 genomes]
rs1972365	1.00[ASN][1000 genomes]
rs4492209	1.00[ASN][1000 genomes]
rs4538734	1.00[ASN][1000 genomes]
rs4895673	1.00[ASN][1000 genomes]
rs4896791	1.00[ASN][1000 genomes]
rs4896794	1.00[ASN][1000 genomes]
rs56091950	1.00[ASN][1000 genomes]
rs62437751	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62440287	1.00[ASN][1000 genomes]
rs6900171	1.00[ASN][1000 genomes]
rs6908878	1.00[ASN][1000 genomes]
rs7751268	1.00[ASN][1000 genomes]
rs7751389	1.00[ASN][1000 genomes]
rs7756319	1.00[ASN][1000 genomes]
rs7771768	1.00[ASN][1000 genomes]
rs7772490	1.00[ASN][1000 genomes]
rs7775733	1.00[ASN][1000 genomes]
rs9376920	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830834	chr6:145392073-145556294	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv886745	chr6:145494486-145554124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145528400-145535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:145528600-145535800	Weak transcription	Osteobl	bone
3	chr6:145532200-145535400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:145532400-145534200	Weak transcription	Fetal Kidney	kidney

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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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