Variant report

Variant	rs72723014
Chromosome Location	chr1:180721670-180721671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180671018..180672808-chr1:180721047..180723320,2	MCF-7	breast:
2	chr1:180710967..180713391-chr1:180719527..180722216,2	K562	blood:
3	chr1:180720423..180723303-chr1:180724330..180726223,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11487432	0.81[EUR][1000 genomes]
rs12089469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301405	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301762	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301936	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17302040	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17302075	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17302102	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17373425	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17373501	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17373660	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17374151	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3845409	0.83[AMR][1000 genomes]
rs3908047	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55960112	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59077359	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809308	0.92[EUR][1000 genomes]
rs61809311	0.92[EUR][1000 genomes]
rs61809312	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809314	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809317	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809334	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61809342	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809345	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809347	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809350	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809351	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809352	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809353	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811190	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811191	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811192	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811193	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811197	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811199	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811202	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811204	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811221	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811223	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811224	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811225	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811227	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811245	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811248	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6664966	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6674012	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6681637	0.84[EUR][1000 genomes]
rs6697299	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72707419	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72707494	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72721001	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723004	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723006	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723023	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723026	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723027	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723035	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723043	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9725163	1.00[AMR][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	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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180708400-180722400	Weak transcription	Aorta	Aorta
2	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:180713400-180742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:180714800-180740600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:180715400-180747600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:180720200-180724000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:180721200-180722200	Enhancers	Osteobl	bone
8	chr1:180721400-180734000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:180721600-180721800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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