Variant report

Variant	rs73555200
Chromosome Location	chr19:44855143-44855144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10404991	0.93[EUR][1000 genomes]
rs10413396	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1047949	0.93[EUR][1000 genomes]
rs11880913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1369099	0.91[EUR][1000 genomes]
rs16978840	0.83[EUR][1000 genomes]
rs1821460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58221454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58304140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59957346	0.93[EUR][1000 genomes]
rs60709409	0.89[EUR][1000 genomes]
rs61733037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73555122	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73555124	0.93[EUR][1000 genomes]
rs73555150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73555158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73555162	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73555165	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73555168	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73555173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73555177	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73555189	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556914	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv963093	chr19:44850276-44876742	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44823200-44856200	ZNF genes & repeats	Liver	Liver
2	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
3	chr19:44844200-44859600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:44844200-44859800	Weak transcription	Osteobl	bone
5	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:44845200-44860000	Weak transcription	HSMM	muscle
7	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:44847400-44855200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:44847800-44855400	Weak transcription	Right Ventricle	heart
10	chr19:44849600-44859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:44850400-44860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:44850400-44860200	Weak transcription	Left Ventricle	heart
13	chr19:44851400-44860400	Weak transcription	Aorta	Aorta
14	chr19:44852400-44855400	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:44852600-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:44854400-44860000	Weak transcription	Ovary	ovary
17	chr19:44854600-44855400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:44854800-44855200	ZNF genes & repeats	Fetal Lung	lung
19	chr19:44854800-44855400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:44854800-44855400	ZNF genes & repeats	A549	lung
21	chr19:44854800-44855600	ZNF genes & repeats	Fetal Brain Male	brain
22	chr19:44854800-44857200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:44854800-44860000	Weak transcription	Pancreas	Pancrea
24	chr19:44855000-44859600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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