Variant report

Variant	rs72790559
Chromosome Location	chr5:108367466-108367467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108365078..108368693-chr5:108374939..108378491,3	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs11948881	0.90[EUR][1000 genomes]
rs11949066	0.83[EUR][1000 genomes]
rs11949367	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11949510	0.90[EUR][1000 genomes]
rs11949619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11949648	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11949706	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11951971	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11951974	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11952227	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11952572	0.83[EUR][1000 genomes]
rs11953136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11953486	0.85[EUR][1000 genomes]
rs11954716	0.90[EUR][1000 genomes]
rs11954988	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11955886	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11956908	0.90[EUR][1000 genomes]
rs11957358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11958918	0.85[EUR][1000 genomes]
rs11959492	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11959577	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17534354	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34412145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34679271	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3851457	0.90[EUR][1000 genomes]
rs3851458	0.90[EUR][1000 genomes]
rs57404758	0.84[EUR][1000 genomes]
rs57622369	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59216020	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60946864	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72787096	0.85[EUR][1000 genomes]
rs72787098	0.85[EUR][1000 genomes]
rs72787099	0.84[EUR][1000 genomes]
rs72787100	0.85[EUR][1000 genomes]
rs72787101	0.85[EUR][1000 genomes]
rs72787102	0.85[EUR][1000 genomes]
rs72789304	0.85[EUR][1000 genomes]
rs72789305	0.84[EUR][1000 genomes]
rs72789306	0.85[EUR][1000 genomes]
rs72789307	0.85[EUR][1000 genomes]
rs72789308	0.85[EUR][1000 genomes]
rs72789309	0.85[EUR][1000 genomes]
rs72789312	0.88[EUR][1000 genomes]
rs72789313	0.88[EUR][1000 genomes]
rs72789315	0.89[EUR][1000 genomes]
rs72789316	0.90[EUR][1000 genomes]
rs72789319	0.90[EUR][1000 genomes]
rs72789320	0.89[EUR][1000 genomes]
rs72789326	0.90[EUR][1000 genomes]
rs72789332	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72789333	0.89[EUR][1000 genomes]
rs72789335	0.90[EUR][1000 genomes]
rs72789341	0.90[EUR][1000 genomes]
rs72789345	0.90[EUR][1000 genomes]
rs72789347	0.90[EUR][1000 genomes]
rs72789348	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72789350	0.90[EUR][1000 genomes]
rs72789352	0.89[EUR][1000 genomes]
rs72790510	0.90[EUR][1000 genomes]
rs72790512	0.90[EUR][1000 genomes]
rs72790514	0.90[EUR][1000 genomes]
rs72790515	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72790520	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790521	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790524	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790529	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790530	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790538	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790539	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790548	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72790551	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790552	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790562	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790574	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790585	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72793918	0.81[EUR][1000 genomes]
rs72793920	0.81[EUR][1000 genomes]
rs72793922	0.81[EUR][1000 genomes]
rs72793923	0.81[EUR][1000 genomes]
rs72793926	0.85[EUR][1000 genomes]
rs72793927	0.85[EUR][1000 genomes]
rs72793933	0.85[EUR][1000 genomes]
rs7734904	0.85[EUR][1000 genomes]
rs7735425	0.85[EUR][1000 genomes]
rs919771	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][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	nsv4952	chr5:108324146-108369353	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108352400-108381400	Weak transcription	Fetal Lung	lung
3	chr5:108356000-108399000	Weak transcription	HSMM	muscle
4	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:108360200-108374000	Weak transcription	HUVEC	blood vessel
6	chr5:108360400-108369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:108360400-108371400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:108360400-108373400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:108360400-108381200	Weak transcription	Adipose Nuclei	Adipose
10	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:108360400-108400400	Weak transcription	NHEK	skin
16	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
18	chr5:108360600-108382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:108360600-108385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:108364600-108374000	Weak transcription	A549	lung
21	chr5:108364800-108368800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:108364800-108368800	Weak transcription	NHDF-Ad	bronchial
23	chr5:108364800-108370000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:108364800-108370800	Weak transcription	Osteobl	bone
25	chr5:108364800-108371000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:108365600-108389400	Weak transcription	HepG2	liver
27	chr5:108366400-108368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:108366600-108387200	Weak transcription	GM12878-XiMat	blood
29	chr5:108366800-108377400	Weak transcription	Fetal Heart	heart
30	chr5:108367000-108387000	Weak transcription	Left Ventricle	heart
31	chr5:108367400-108367800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:108367400-108368200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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