Variant report

Variant	rs57498384
Chromosome Location	chr19:53046400-53046401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55680236	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57798377	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58253486	1.00[AMR][1000 genomes]
rs58627896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59303019	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61049110	1.00[AMR][1000 genomes]
rs71358880	0.85[AFR][1000 genomes]
rs73934553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53032200-53057000	Weak transcription	Hela-S3	cervix
2	chr19:53032600-53049800	Weak transcription	HepG2	liver
3	chr19:53037600-53051800	Weak transcription	K562	blood
4	chr19:53039000-53052200	Weak transcription	Fetal Brain Male	brain
5	chr19:53039200-53056000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr19:53039600-53052000	Weak transcription	HSMMtube	muscle
7	chr19:53039800-53050600	Weak transcription	Fetal Lung	lung
8	chr19:53039800-53051600	Weak transcription	Brain Substantia Nigra	brain
9	chr19:53039800-53051600	Weak transcription	Fetal Kidney	kidney
10	chr19:53040000-53046600	Weak transcription	Gastric	stomach
11	chr19:53040000-53046600	Weak transcription	Ovary	ovary
12	chr19:53040000-53046800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:53040000-53046800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:53040000-53046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:53040000-53046800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:53040000-53047400	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:53040000-53047400	Weak transcription	HSMM	muscle
18	chr19:53040000-53047600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:53040000-53051600	Weak transcription	Brain Angular Gyrus	brain
20	chr19:53040000-53051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:53040000-53052000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:53040000-53052200	Weak transcription	Psoas Muscle	Psoas
23	chr19:53040000-53054400	Weak transcription	Fetal Heart	heart
24	chr19:53040200-53046400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:53040200-53046400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:53040200-53046600	Weak transcription	Osteobl	bone
27	chr19:53040200-53046800	Weak transcription	Right Ventricle	heart
28	chr19:53040200-53047400	Weak transcription	Fetal Brain Female	brain
29	chr19:53040200-53050000	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:53040200-53051800	Weak transcription	NHDF-Ad	bronchial
31	chr19:53040200-53057400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:53040400-53046400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:53040400-53046400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:53040400-53046400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:53040400-53046600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr19:53040400-53046600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:53040400-53046600	Weak transcription	Adipose Nuclei	Adipose
38	chr19:53040400-53046600	Weak transcription	HMEC	breast
39	chr19:53040400-53046600	Weak transcription	NHLF	lung
40	chr19:53040400-53046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:53040400-53046800	Weak transcription	Primary T cells from cord blood	blood
42	chr19:53040400-53046800	Weak transcription	Brain Germinal Matrix	brain
43	chr19:53040400-53046800	Weak transcription	Placenta	Placenta
44	chr19:53040400-53047000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:53040400-53057600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:53040600-53046800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:53040600-53047400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:53040600-53049800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:53042000-53070400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:53042200-53051600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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