Variant report

Variant	rs72720958
Chromosome Location	chr1:180546517-180546518
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10494531	1.00[ASN][1000 genomes]
rs12028578	0.92[EUR][1000 genomes]
rs12073348	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12562357	0.91[EUR][1000 genomes]
rs12723609	1.00[ASN][1000 genomes]
rs12735662	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12754682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301118	1.00[ASN][1000 genomes]
rs17301132	1.00[ASN][1000 genomes]
rs17373022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17373133	1.00[ASN][1000 genomes]
rs3845400	1.00[ASN][1000 genomes]
rs3845401	1.00[ASN][1000 genomes]
rs6663339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67466592	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72720941	1.00[ASN][1000 genomes]
rs72720943	1.00[ASN][1000 genomes]
rs72720953	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180541600-180549600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:180543200-180547400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:180543800-180548800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:180544000-180549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:180544000-180549000	Weak transcription	Stomach Mucosa	stomach
6	chr1:180544200-180548800	Weak transcription	HMEC	breast
7	chr1:180544400-180548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:180545000-180546600	Weak transcription	Fetal Brain Male	brain
9	chr1:180545200-180549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:180545200-180549400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:180545200-180549400	Weak transcription	K562	blood
12	chr1:180545200-180549400	Weak transcription	NHEK	skin
13	chr1:180545800-180549200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:180546000-180547200	Enhancers	Osteobl	bone
15	chr1:180546200-180546800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:180546400-180546600	Enhancers	NH-A	brain
17	chr1:180546400-180547800	Enhancers	Pancreas	Pancrea

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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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