Variant report

Variant	rs393473
Chromosome Location	chr19:44466221-44466222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs364378	0.87[AMR][1000 genomes]
rs364693	0.87[AMR][1000 genomes]
rs365769	0.85[AFR][1000 genomes]
rs367056	1.00[LWK][hapmap];0.90[MKK][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs367241	0.96[AFR][1000 genomes]
rs373043	0.85[AFR][1000 genomes]
rs376769	0.86[ASW][hapmap];0.87[MKK][hapmap];0.87[AMR][1000 genomes]
rs379722	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs382715	0.87[AMR][1000 genomes]
rs384432	0.83[AFR][1000 genomes]
rs391596	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs393117	1.00[LWK][hapmap];0.93[MKK][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs393403	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs393737	1.00[LWK][hapmap];0.93[MKK][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs395143	0.89[AFR][1000 genomes]
rs424364	0.83[AFR][1000 genomes]
rs435590	0.89[AMR][1000 genomes]
rs441225	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs442934	0.91[AFR][1000 genomes]
rs446072	0.86[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs452143	0.85[AFR][1000 genomes]
rs453611	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs461374	0.87[AMR][1000 genomes]
rs465860	0.87[AMR][1000 genomes]
rs8101844	0.87[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	chr19:44456400-44479600	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	chr19:44463600-44466800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:44463600-44466800	Weak transcription	Fetal Kidney	kidney
21	chr19:44463600-44467600	Weak transcription	Osteobl	bone
22	chr19:44464000-44475000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:44464400-44475800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:44465000-44467400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:44465200-44466800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:44465200-44468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:44465400-44466400	Weak transcription	Aorta	Aorta
28	chr19:44465400-44466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:44465400-44466400	Weak transcription	Left Ventricle	heart
30	chr19:44465400-44466800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:44465400-44466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:44465400-44466800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:44465400-44466800	Weak transcription	Gastric	stomach
34	chr19:44465400-44467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:44465400-44468400	Weak transcription	Lung	lung
36	chr19:44465400-44468400	Weak transcription	Pancreas	Pancrea
37	chr19:44465400-44468400	Weak transcription	Right Ventricle	heart
38	chr19:44465600-44466400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:44465600-44466400	Weak transcription	Ovary	ovary
40	chr19:44465600-44466600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:44465600-44466600	Weak transcription	Brain Substantia Nigra	brain
42	chr19:44465600-44466600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:44465600-44466600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:44465600-44466800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:44465600-44467000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:44465600-44468400	Weak transcription	Placenta	Placenta
47	chr19:44465600-44468800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr19:44465600-44469000	Weak transcription	Fetal Stomach	stomach
49	chr19:44465600-44475400	ZNF genes & repeats	Fetal Brain Male	brain
50	chr19:44465800-44466600	Weak transcription	Brain Cingulate Gyrus	brain

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