Variant report

Variant	rs72644095
Chromosome Location	chr5:58530778-58530779
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10461659	0.91[ASN][1000 genomes]
rs10805513	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12656944	0.88[EUR][1000 genomes]
rs12658429	0.95[ASN][1000 genomes]
rs17589633	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17589745	0.91[ASN][1000 genomes]
rs17589766	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2061282	0.94[ASN][1000 genomes]
rs3891334	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6898269	0.87[ASN][1000 genomes]
rs72644096	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72644097	0.87[ASN][1000 genomes]
rs72644098	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
2	chr5:58516200-58531000	Weak transcription	Psoas Muscle	Psoas
3	chr5:58519200-58535000	Weak transcription	Left Ventricle	heart
4	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58521400-58532800	Weak transcription	Hela-S3	cervix
6	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
7	chr5:58529400-58532000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:58529600-58531000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:58529600-58533400	Enhancers	Fetal Heart	heart
10	chr5:58529800-58531000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:58529800-58535000	Weak transcription	Right Atrium	heart
12	chr5:58530000-58530800	Weak transcription	A549	lung
13	chr5:58530400-58530800	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:58530600-58531000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:58530600-58531600	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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