Variant report

Variant	rs4487024
Chromosome Location	chr19:53710758-53710759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853857	0.84[EUR][1000 genomes]
rs4447544	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4803062	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4803063	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6509734	0.82[EUR][1000 genomes]
rs7249771	0.89[EUR][1000 genomes]
rs8101908	0.85[EUR][1000 genomes]
rs8102940	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers 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	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53701200-53713200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:53701400-53715200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
3	chr19:53701600-53715400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
4	chr19:53701600-53720200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr19:53701600-53724800	ZNF genes & repeats	Liver	Liver
6	chr19:53701600-53725000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:53701600-53725000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:53701800-53718400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:53701800-53725400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:53702200-53715200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr19:53702400-53724800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:53703400-53715200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:53703600-53715000	ZNF genes & repeats	Ovary	ovary
14	chr19:53705200-53715000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr19:53706600-53716600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
16	chr19:53708800-53712000	Weak transcription	Fetal Heart	heart
17	chr19:53708800-53712200	Weak transcription	Fetal Kidney	kidney
18	chr19:53708800-53712400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:53709000-53711200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:53709000-53711200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:53709000-53711600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:53709000-53711600	Weak transcription	Stomach Mucosa	stomach
23	chr19:53709000-53711800	Weak transcription	Right Ventricle	heart
24	chr19:53709000-53711800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:53709000-53712200	Weak transcription	Dnd41	blood
26	chr19:53709000-53712400	Weak transcription	HUVEC	blood vessel
27	chr19:53709000-53712400	Weak transcription	Osteobl	bone
28	chr19:53709000-53712800	Weak transcription	Fetal Thymus	thymus
29	chr19:53709000-53714000	Weak transcription	HSMMtube	muscle
30	chr19:53709200-53711400	Weak transcription	Psoas Muscle	Psoas
31	chr19:53709200-53711600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:53709200-53711600	Weak transcription	Colonic Mucosa	Colon
33	chr19:53709200-53711600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr19:53709200-53711600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:53709200-53711800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:53709200-53711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:53709200-53712000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:53709200-53712200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:53709200-53712200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:53709200-53712400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:53709200-53712400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:53709200-53712400	Weak transcription	Fetal Intestine Large	intestine
43	chr19:53709400-53712800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:53709600-53710800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:53709600-53711200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:53709600-53711200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:53709600-53711400	Weak transcription	Left Ventricle	heart
48	chr19:53709600-53711400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:53709600-53711600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr19:53709600-53711600	Weak transcription	Aorta	Aorta

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