Variant report

Variant	rs72707494
Chromosome Location	chr1:180872417-180872418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180871767..180874568-chr1:180875156..180878009,2	K562	blood:
2	chr1:180869131..180871250-chr1:180872098..180874284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12089469	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17301405	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17301581	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17301602	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17301762	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17301936	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17302040	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17302075	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17302102	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17373501	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17373660	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17374151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3845409	0.83[AMR][1000 genomes]
rs3908047	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55960112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59077359	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61809334	0.80[AMR][1000 genomes]
rs61809342	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61809345	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61809347	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61809350	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61809351	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61809352	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61809353	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61809354	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61809355	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61809356	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61809357	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61809358	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61811160	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61811190	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811191	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811192	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811193	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811197	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811199	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811202	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811204	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811221	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811222	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61811223	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61811224	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61811225	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61811227	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811245	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61811248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664966	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6674012	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6697299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707419	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72723004	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72723006	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72723010	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72723014	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72723023	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72723026	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72723027	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72723035	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72723043	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9725163	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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 target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
3	chr1:180847400-180875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:180861200-180880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:180868000-180878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:180868400-180878400	Weak transcription	Fetal Lung	lung
7	chr1:180868800-180879400	Weak transcription	Fetal Stomach	stomach
8	chr1:180868800-180880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
10	chr1:180869200-180877400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:180869400-180875800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:180869600-180881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180869800-180880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:180870800-180880600	Weak transcription	Brain Germinal Matrix	brain

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