Variant report

Variant	rs58392415
Chromosome Location	chr19:42575972-42575973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:42575337-42576029	A549	lung:	n/a	chr19:42575602-42575612 chr19:42575604-42575613 chr19:42575621-42575631

No.	Distal block	Cell Line	Cell type
1	chr19:42571181..42573174-chr19:42575458..42577552,2	MCF-7	breast:
2	chr19:42570479..42573430-chr19:42575008..42577066,2	K562	blood:
3	chr19:42462277..42464227-chr19:42574853..42577706,2	K562	blood:
4	chr19:42569439..42573430-chr19:42574335..42577066,3	K562	blood:
5	chr19:42574572..42576808-chr19:42577364..42580132,2	K562	blood:

Variant related genes	Relation type
GRIK5	TF binding region
ZNF574	TF binding region
ENSG00000105732	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000105737	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61750871	0.91[AMR][1000 genomes];1.00[ASN][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42557800-42579200	Weak transcription	Gastric	stomach
2	chr19:42574000-42579200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:42574400-42578800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:42574400-42578800	Weak transcription	Primary T cells from cord blood	blood
5	chr19:42574400-42579000	Weak transcription	Esophagus	oesophagus
6	chr19:42574400-42579200	Weak transcription	Brain Substantia Nigra	brain
7	chr19:42574400-42579200	Weak transcription	Right Ventricle	heart
8	chr19:42574400-42579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:42574600-42579000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:42574600-42579200	Weak transcription	Left Ventricle	heart
11	chr19:42574600-42579200	Weak transcription	Right Atrium	heart
12	chr19:42574800-42576400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:42574800-42578800	Weak transcription	Primary B cells from cord blood	blood
14	chr19:42574800-42579000	Weak transcription	Spleen	Spleen
15	chr19:42574800-42579200	Weak transcription	Aorta	Aorta
16	chr19:42574800-42579200	Weak transcription	Fetal Lung	lung
17	chr19:42575000-42578800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:42575000-42578800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:42575000-42579000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42575000-42579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:42575000-42579200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:42575000-42579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:42575200-42578800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:42575200-42578800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:42575200-42578800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:42575200-42578800	Weak transcription	Brain Anterior Caudate	brain
27	chr19:42575200-42578800	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:42575200-42578800	Weak transcription	Fetal Stomach	stomach
29	chr19:42575200-42578800	Weak transcription	Fetal Thymus	thymus
30	chr19:42575200-42579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:42575200-42579000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:42575200-42579000	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:42575200-42579200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:42575200-42579200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:42575200-42579200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:42575200-42579200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:42575200-42579200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:42575400-42577000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:42575400-42578800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:42575400-42578800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:42575400-42578800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:42575400-42578800	Weak transcription	Brain Germinal Matrix	brain
43	chr19:42575400-42579000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:42575400-42579200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:42575400-42579200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:42575400-42579200	Weak transcription	Brain Angular Gyrus	brain
47	chr19:42575600-42579200	Weak transcription	Fetal Brain Female	brain
48	chr19:42575800-42577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:42575800-42578800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:42575800-42579000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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