Variant report

Variant	rs391596
Chromosome Location	chr19:44465533-44465534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs367056	0.87[YRI][hapmap];0.95[AFR][1000 genomes]
rs367241	0.83[AFR][1000 genomes]
rs373043	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs374421	0.89[AMR][1000 genomes]
rs393117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs393403	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs393473	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs393737	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs407806	0.81[AMR][1000 genomes]
rs435590	1.00[AMR][1000 genomes]
rs441225	0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs442934	0.95[AFR][1000 genomes]
rs443074	0.89[AMR][1000 genomes]
rs446072	0.81[AFR][1000 genomes]
rs447175	0.89[AMR][1000 genomes]
rs451601	0.81[AMR][1000 genomes]
rs451612	0.81[AMR][1000 genomes]
rs453640	0.89[AMR][1000 genomes]
rs454301	0.81[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	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

No data

Chromatin state (count:56 , 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	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
5	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:44460000-44467400	Weak transcription	HSMM	muscle
8	chr19:44461400-44465600	ZNF genes & repeats	Ovary	ovary
9	chr19:44461800-44475200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:44462000-44475000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:44462200-44465600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44462200-44465600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:44462200-44474800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr19:44462200-44475600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:44462200-44475800	ZNF genes & repeats	Fetal Lung	lung
17	chr19:44462200-44476600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr19:44462400-44465800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:44462400-44475400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr19:44462800-44475400	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr19:44463000-44478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:44463200-44475600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr19:44463200-44475600	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr19:44463400-44465600	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr19:44463400-44476400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:44463600-44466800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:44463600-44466800	Weak transcription	Fetal Kidney	kidney
28	chr19:44463600-44467600	Weak transcription	Osteobl	bone
29	chr19:44464000-44465600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
30	chr19:44464000-44475000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:44464400-44465600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr19:44464400-44475800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr19:44464600-44465600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr19:44464600-44465600	ZNF genes & repeats	Fetal Stomach	stomach
35	chr19:44464600-44465600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
36	chr19:44464600-44465600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
37	chr19:44464800-44465600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:44464800-44465800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
39	chr19:44465000-44465600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:44465000-44467400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:44465200-44466800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:44465200-44468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:44465400-44466000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:44465400-44466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:44465400-44466200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:44465400-44466400	Weak transcription	Aorta	Aorta
47	chr19:44465400-44466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:44465400-44466400	Weak transcription	Left Ventricle	heart
49	chr19:44465400-44466800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:44465400-44466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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