Variant report

Variant	rs73053919
Chromosome Location	chr5:15008693-15008694
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	chr5:15003537..15006436-chr5:15007332..15010646,5	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57065561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58273079	1.00[AMR][1000 genomes]
rs73053933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056034	1.00[AMR][1000 genomes]
rs73056036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv524142	chr5:14986700-15018537	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15005000-15008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15005000-15009200	Weak transcription	Brain Angular Gyrus	brain
3	chr5:15005200-15008800	Weak transcription	Fetal Heart	heart
4	chr5:15005200-15008800	Weak transcription	Left Ventricle	heart
5	chr5:15005200-15008800	Weak transcription	Right Ventricle	heart
6	chr5:15006800-15009000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:15007400-15009600	Enhancers	Adipose Nuclei	Adipose
8	chr5:15007600-15009400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:15007600-15010000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:15007800-15009200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:15007800-15009400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:15007800-15009600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr5:15007800-15011000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:15008000-15008800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:15008000-15008800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:15008000-15008800	Flanking Active TSS	Osteobl	bone
17	chr5:15008000-15009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:15008000-15009000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:15008000-15009000	Enhancers	NH-A	brain
20	chr5:15008000-15009400	Enhancers	Fetal Muscle Leg	muscle
21	chr5:15008000-15009400	Enhancers	Small Intestine	intestine
22	chr5:15008000-15009400	Flanking Active TSS	A549	lung
23	chr5:15008000-15009600	Enhancers	Stomach Mucosa	stomach
24	chr5:15008000-15009800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:15008000-15009800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:15008000-15009800	Enhancers	NHDF-Ad	bronchial
27	chr5:15008000-15010000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:15008000-15010000	Enhancers	HSMM	muscle
29	chr5:15008000-15010600	Enhancers	HUVEC	blood vessel
30	chr5:15008000-15011200	Enhancers	Liver	Liver
31	chr5:15008000-15011400	Enhancers	Fetal Intestine Small	intestine
32	chr5:15008200-15009000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:15008200-15009400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:15008200-15010000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:15008200-15010000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:15008200-15010000	Enhancers	NHLF	lung
37	chr5:15008200-15010400	Enhancers	Fetal Intestine Large	intestine
38	chr5:15008400-15009000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:15008400-15009000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:15008400-15009000	Weak transcription	Brain Substantia Nigra	brain
41	chr5:15008400-15009400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:15008400-15009400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:15008400-15009400	Weak transcription	Brain Germinal Matrix	brain
44	chr5:15008400-15009800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:15008400-15009800	Flanking Active TSS	Hela-S3	cervix
46	chr5:15008400-15010000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr5:15008400-15010000	Enhancers	Colon Smooth Muscle	Colon
48	chr5:15008400-15010600	Enhancers	Duodenum Mucosa	Duodenum
49	chr5:15008600-15008800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:15008600-15009000	Enhancers	Fetal Muscle Trunk	muscle

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