Variant report

Variant	rs1654372
Chromosome Location	chr19:38524787-38524788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1612361	0.83[AFR][1000 genomes]
rs1654343	0.81[AFR][1000 genomes]
rs1654345	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729083	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs734365	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs855605	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
2	nsv911656	chr19:38505037-38539988	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1060359	chr19:38512719-38552438	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38495400-38526400	Weak transcription	Ovary	ovary
2	chr19:38506600-38526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:38508600-38537000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:38514600-38530200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:38514800-38526400	Weak transcription	Left Ventricle	heart
6	chr19:38514800-38537000	Weak transcription	Colonic Mucosa	Colon
7	chr19:38515000-38526600	Weak transcription	Right Ventricle	heart
8	chr19:38515600-38524800	Weak transcription	Fetal Kidney	kidney
9	chr19:38515800-38526000	Weak transcription	HepG2	liver
10	chr19:38516200-38528000	Weak transcription	Fetal Brain Female	brain
11	chr19:38516800-38526600	Weak transcription	HMEC	breast
12	chr19:38516800-38536200	Weak transcription	Spleen	Spleen
13	chr19:38517000-38526800	Weak transcription	Brain Angular Gyrus	brain
14	chr19:38517000-38526800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:38517000-38530800	Weak transcription	NHEK	skin
16	chr19:38517000-38537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:38517200-38526200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:38517400-38526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:38517400-38526400	Weak transcription	Psoas Muscle	Psoas
20	chr19:38519000-38525000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:38520400-38526200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:38521600-38525000	Weak transcription	Gastric	stomach
23	chr19:38521800-38526000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:38521800-38526200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:38521800-38526200	Weak transcription	NHLF	lung
26	chr19:38521800-38526200	Enhancers	Osteobl	bone
27	chr19:38521800-38537000	Weak transcription	Esophagus	oesophagus
28	chr19:38521800-38538400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:38521800-38538400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:38521800-38548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:38522000-38525000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:38522000-38526400	Weak transcription	Brain Substantia Nigra	brain
33	chr19:38522000-38526600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr19:38522000-38536600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:38522000-38553600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:38522200-38526600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:38522200-38527800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:38522200-38529000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:38522200-38537200	Weak transcription	Thymus	Thymus
40	chr19:38522400-38525800	Weak transcription	NHDF-Ad	bronchial
41	chr19:38522400-38526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:38522400-38527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:38522400-38528800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:38522600-38525000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:38522600-38527000	Weak transcription	Fetal Stomach	stomach
46	chr19:38522600-38528600	Weak transcription	Fetal Brain Male	brain
47	chr19:38522800-38526400	Weak transcription	HSMMtube	muscle
48	chr19:38522800-38528000	Enhancers	NH-A	brain
49	chr19:38522800-38529000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:38523000-38524800	Enhancers	Primary B cells from peripheral blood	blood

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