Variant report

Variant	rs72668305
Chromosome Location	chr1:57142328-57142329
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17114115	0.88[EUR][1000 genomes]
rs17848597	1.00[AMR][1000 genomes]
rs3738568	1.00[AMR][1000 genomes]
rs58146416	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72664370	0.88[EUR][1000 genomes]
rs72666445	0.90[ASN][1000 genomes]
rs72666448	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72666450	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72666481	1.00[EUR][1000 genomes]
rs72666484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666498	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668306	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668308	0.86[ASN][1000 genomes]
rs72668309	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72668317	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72668319	0.86[ASN][1000 genomes]
rs72668321	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72668325	0.86[ASN][1000 genomes]
rs72668327	0.86[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
4	chr1:57129800-57152200	Weak transcription	Psoas Muscle	Psoas
5	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:57136200-57161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:57141600-57142600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:57141600-57143000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:57141600-57144000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:57141600-57144000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:57141800-57143000	Enhancers	NHDF-Ad	bronchial
12	chr1:57141800-57143200	Enhancers	NHLF	lung
13	chr1:57141800-57143400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:57141800-57144000	Enhancers	Hela-S3	cervix
15	chr1:57142000-57142600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:57142000-57142800	Enhancers	A549	lung
17	chr1:57142000-57142800	Enhancers	HSMM	muscle
18	chr1:57142000-57143200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:57142000-57143400	Enhancers	Fetal Heart	heart
20	chr1:57142200-57142600	Strong transcription	HepG2	liver
21	chr1:57142200-57142600	Enhancers	HSMMtube	muscle
22	chr1:57142200-57143000	Enhancers	NH-A	brain
23	chr1:57142200-57143200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:57142200-57145000	Weak transcription	Left Ventricle	heart

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