Variant report

Variant	rs72712519
Chromosome Location	chr14:63641922-63641923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63640738..63642463-chr14:63742531..63744543,12	MCF-7	breast:
2	chr14:62629542..62630266-chr14:63641289..63642003,2	MCF-7	breast:
3	chr14:63641198..63641930-chr14:63775163..63776037,2	MCF-7	breast:
4	chr14:63641230..63642038-chr14:63743168..63743785,3	MCF-7	breast:
5	chr14:63641247..63642022-chr14:63740370..63741339,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17100818	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17100827	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17100839	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17100842	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17100844	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17100849	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17224223	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17824107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824137	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957781	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957782	0.96[EUR][1000 genomes]
rs2223947	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56259683	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56265501	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58209565	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59442023	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59772452	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72712531	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72712532	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72712533	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72712537	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72712539	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72712540	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72712541	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72712542	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72712544	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712545	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017562	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv902017	chr14:63604188-63674832	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63639800-63645600	Weak transcription	Right Atrium	heart
2	chr14:63640200-63644800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:63640400-63642000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:63640400-63642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:63640400-63642600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:63640400-63643400	Enhancers	NH-A	brain
7	chr14:63640600-63642000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:63640600-63642200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:63640600-63642200	Enhancers	HMEC	breast
10	chr14:63640600-63642200	Enhancers	NHEK	skin
11	chr14:63640600-63643200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:63640800-63642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:63640800-63642000	Enhancers	Osteobl	bone
14	chr14:63640800-63642200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:63640800-63642200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:63640800-63642200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:63641000-63642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:63641200-63642000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:63641200-63642000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:63641200-63642000	Enhancers	Colon Smooth Muscle	Colon
21	chr14:63641400-63642000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:63641400-63642000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:63641400-63642000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:63641400-63642000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:63641400-63642000	Bivalent Enhancer	HSMMtube	muscle
26	chr14:63641400-63642800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:63641600-63642000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:63641600-63642000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr14:63641600-63642000	Enhancers	Brain Anterior Caudate	brain
30	chr14:63641800-63642000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:63641800-63642200	Flanking Active TSS	HUVEC	blood vessel

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