Variant report

Variant	rs383133
Chromosome Location	chr19:44467096-44467097
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs381872	0.84[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs413061	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs427401	0.94[ASN][1000 genomes]
rs429611	0.94[ASN][1000 genomes]
rs441386	0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs442543	0.88[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs442903	0.80[ASN][1000 genomes]
rs453932	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs457642	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs383133	RP11-15A1.7	cis	Whole Blood	GTEx
rs383133	ZNF155	cis	Whole Blood	GTEx
rs383133	KLC3	cis	parietal	SCAN
rs383133	ZNF155	cis	multi-tissue	Pritchard
rs383133	ZNF155	cis	lymphoblastoid	seeQTL
rs383133	PNMAL1	cis	parietal	SCAN
rs383133	FUT1	cis	cerebellum	SCAN
rs383133	PPP2R1A	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
2	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
4	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44460000-44467400	Weak transcription	HSMM	muscle
6	chr19:44461800-44475200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44462000-44475000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:44462200-44474800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
10	chr19:44462200-44475600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:44462200-44475800	ZNF genes & repeats	Fetal Lung	lung
12	chr19:44462200-44476600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr19:44462400-44475400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr19:44462800-44475400	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr19:44463000-44478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:44463200-44475600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr19:44463200-44475600	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr19:44463400-44476400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:44463600-44467600	Weak transcription	Osteobl	bone
20	chr19:44464000-44475000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:44464400-44475800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:44465000-44467400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:44465200-44468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:44465400-44467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:44465400-44468400	Weak transcription	Lung	lung
26	chr19:44465400-44468400	Weak transcription	Pancreas	Pancrea
27	chr19:44465400-44468400	Weak transcription	Right Ventricle	heart
28	chr19:44465600-44468400	Weak transcription	Placenta	Placenta
29	chr19:44465600-44468800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr19:44465600-44469000	Weak transcription	Fetal Stomach	stomach
31	chr19:44465600-44475400	ZNF genes & repeats	Fetal Brain Male	brain
32	chr19:44465800-44475400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:44466200-44473200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:44466200-44475000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44466200-44475200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:44466200-44475600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
37	chr19:44466400-44467200	ZNF genes & repeats	Aorta	Aorta
38	chr19:44466400-44474800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:44466400-44474800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr19:44466400-44474800	ZNF genes & repeats	Ovary	ovary
41	chr19:44466400-44475000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:44466400-44475600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:44466400-44476200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr19:44466400-44480000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:44466600-44470200	Weak transcription	Fetal Thymus	thymus
46	chr19:44466600-44472800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr19:44466600-44474600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr19:44466600-44474600	ZNF genes & repeats	Dnd41	blood
49	chr19:44466600-44474800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr19:44466600-44474800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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