Variant report

Variant	rs56408111
Chromosome Location	chr19:19793545-19793546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19784981..19786975-chr19:19793453..19795583,2	K562	blood:

Variant related genes	Relation type
ENSG00000181896	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2304130	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58434384	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv519533	chr19:19789528-19831544	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56408111	ENSG00000105726	cis	multi-tissue	Pritchard

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19780600-19795000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:19780800-19795000	ZNF genes & repeats	Fetal Thymus	thymus
3	chr19:19780800-19795000	ZNF genes & repeats	Thymus	Thymus
4	chr19:19781200-19795800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:19781600-19795000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
6	chr19:19781800-19794400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr19:19782000-19795000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:19782000-19795600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:19782000-19798200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:19782600-19793800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:19782800-19795000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr19:19783000-19795000	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr19:19783400-19795000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr19:19785000-19794000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:19786200-19793800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:19787400-19794000	ZNF genes & repeats	Dnd41	blood
17	chr19:19790400-19794600	Weak transcription	Pancreas	Pancrea
18	chr19:19790600-19793600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:19790800-19794600	Weak transcription	Gastric	stomach
20	chr19:19790800-19797000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:19791000-19793600	Weak transcription	Fetal Brain Male	brain
22	chr19:19791000-19793600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:19791000-19793800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:19791000-19794800	Weak transcription	Brain Anterior Caudate	brain
25	chr19:19791000-19798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:19791000-19799200	Weak transcription	Fetal Kidney	kidney
27	chr19:19791000-19802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:19791200-19793600	Weak transcription	Fetal Lung	lung
29	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
30	chr19:19791400-19794000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:19791600-19794000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:19791600-19810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:19791800-19794600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:19791800-19794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr19:19792000-19794600	Weak transcription	Brain Germinal Matrix	brain
36	chr19:19792000-19797200	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:19792200-19793800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:19792200-19793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:19792400-19793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:19792400-19794000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:19792400-19796000	Weak transcription	Fetal Brain Female	brain
42	chr19:19792400-19798000	Weak transcription	Left Ventricle	heart
43	chr19:19792400-19810000	Weak transcription	Ovary	ovary
44	chr19:19792600-19793600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:19792600-19793600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:19792600-19794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:19792600-19795600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:19792600-19795800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:19792600-19796400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:19792600-19798000	Weak transcription	H9 Cell Line	embryonic stem cell

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