Variant report

Variant	rs427401
Chromosome Location	chr19:44463862-44463863
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10402944	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2299936	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2429734	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs366431	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs368492	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs376655	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs377931	0.81[EUR][1000 genomes]
rs377934	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs381220	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs381872	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs383133	0.94[ASN][1000 genomes]
rs385202	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs385578	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs386249	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs386747	0.85[AMR][1000 genomes]
rs388547	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs390134	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs391961	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs394132	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs394380	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs395419	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs396188	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs400591	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs401770	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs413061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415468	0.88[EUR][1000 genomes]
rs415867	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs424041	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs429611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437700	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs439417	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs441386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs441742	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs442543	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs442903	0.82[ASN][1000 genomes]
rs444816	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs445865	0.86[AMR][1000 genomes]
rs453682	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs454376	0.85[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
2	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
8	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:44459600-44464200	Weak transcription	Brain Angular Gyrus	brain
12	chr19:44460000-44467400	Weak transcription	HSMM	muscle
13	chr19:44461400-44465600	ZNF genes & repeats	Ovary	ovary
14	chr19:44461800-44475200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr19:44462000-44465200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:44462000-44465400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:44462000-44475000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:44462200-44465600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:44462200-44465600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:44462200-44474800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr19:44462200-44475600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:44462200-44475800	ZNF genes & repeats	Fetal Lung	lung
24	chr19:44462200-44476600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr19:44462400-44465400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr19:44462400-44465800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:44462400-44475400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:44462600-44465400	ZNF genes & repeats	Left Ventricle	heart
29	chr19:44462800-44475400	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr19:44463000-44478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:44463200-44475600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr19:44463200-44475600	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr19:44463400-44465200	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr19:44463400-44465200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:44463400-44465400	ZNF genes & repeats	Aorta	Aorta
36	chr19:44463400-44465400	ZNF genes & repeats	Right Ventricle	heart
37	chr19:44463400-44465600	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr19:44463400-44476400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:44463600-44464600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:44463600-44465400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:44463600-44465400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:44463600-44466800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:44463600-44466800	Weak transcription	Fetal Kidney	kidney
44	chr19:44463600-44467600	Weak transcription	Osteobl	bone
45	chr19:44463800-44465400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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