Variant report

Variant	rs72784415
Chromosome Location	chr5:92497654-92497655
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	chr5:92492798..92494347-chr5:92496334..92499006,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10428629	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10514371	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11950344	0.90[AMR][1000 genomes]
rs11950401	0.84[AMR][1000 genomes]
rs11951631	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956024	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11960764	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17082959	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17083014	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17083016	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4072110	0.85[AMR][1000 genomes]
rs4526087	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59636184	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61453097	0.81[EUR][1000 genomes]
rs6557062	0.81[EUR][1000 genomes]
rs6557065	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6867000	0.82[AMR][1000 genomes]
rs6872680	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6884717	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72784407	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72784408	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72784412	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784417	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72784426	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784435	0.83[EUR][1000 genomes]
rs72784436	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72784437	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72784438	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72784445	0.90[AMR][1000 genomes]
rs7341012	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7341013	0.82[EUR][1000 genomes]
rs7701217	0.81[EUR][1000 genomes]
rs7722832	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7725232	0.90[AMR][1000 genomes]
rs7729235	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7733100	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7733839	0.80[AMR][1000 genomes]
rs7737511	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7738036	0.85[AMR][1000 genomes]
rs9764312	0.87[AMR][1000 genomes];1.00[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	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92486600-92498200	Weak transcription	Aorta	Aorta
2	chr5:92494000-92498200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:92494800-92498200	Weak transcription	Right Atrium	heart
4	chr5:92495000-92498000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:92495200-92498000	Weak transcription	HSMMtube	muscle
6	chr5:92496000-92498200	Enhancers	HSMM	muscle
7	chr5:92496200-92498000	Enhancers	Osteobl	bone
8	chr5:92496200-92498600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:92496400-92498600	Enhancers	Fetal Stomach	stomach
10	chr5:92496400-92500800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:92496400-92500800	Enhancers	HMEC	breast
12	chr5:92496600-92498200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:92496600-92499400	Enhancers	Fetal Lung	lung
14	chr5:92496600-92500600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:92496600-92500800	Enhancers	NHLF	lung
16	chr5:92496800-92498000	Enhancers	HUVEC	blood vessel
17	chr5:92496800-92498200	Enhancers	NHDF-Ad	bronchial
18	chr5:92497000-92497800	Enhancers	NH-A	brain
19	chr5:92497000-92498200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:92497000-92498200	Enhancers	A549	lung
21	chr5:92497000-92498400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:92497000-92498400	Enhancers	Fetal Muscle Leg	muscle
23	chr5:92497000-92499400	Enhancers	Adipose Nuclei	Adipose
24	chr5:92497200-92498400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:92497200-92499000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:92497200-92499200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:92497200-92499400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:92497400-92497800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:92497400-92498200	Enhancers	NHEK	skin
30	chr5:92497400-92499400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:92497600-92497800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:92497600-92498000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:92497600-92498000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:92497600-92498400	Enhancers	Brain Germinal Matrix	brain
35	chr5:92497600-92498800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:92497600-92499400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:92497600-92499400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:92497600-92499400	Enhancers	Fetal Kidney	kidney
39	chr5:92497600-92499600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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