Variant report

Variant	rs73566771
Chromosome Location	chr19:52189653-52189654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12973747	0.92[ASN][1000 genomes]
rs16982909	0.87[ASN][1000 genomes]
rs16982927	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61429594	0.95[ASN][1000 genomes]
rs7255413	1.00[ASN][1000 genomes]
rs73052899	0.92[ASN][1000 genomes]
rs882105	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
12	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
13	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52184800-52190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:52184800-52190800	Weak transcription	Right Atrium	heart
3	chr19:52185000-52189800	Weak transcription	Brain Germinal Matrix	brain
4	chr19:52185200-52189800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:52185200-52190200	Weak transcription	Fetal Lung	lung
6	chr19:52185200-52190800	Weak transcription	Fetal Kidney	kidney
7	chr19:52185400-52190200	Weak transcription	Fetal Muscle Leg	muscle
8	chr19:52185400-52190800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:52187200-52190400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr19:52187600-52191000	Weak transcription	Psoas Muscle	Psoas
11	chr19:52188800-52190200	Weak transcription	K562	blood
12	chr19:52189200-52190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:52189200-52190200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr19:52189200-52190400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:52189200-52190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:52189200-52190800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:52189200-52190800	Enhancers	NHDF-Ad	bronchial
18	chr19:52189200-52190800	Enhancers	Osteobl	bone
19	chr19:52189400-52189800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:52189400-52189800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:52189400-52189800	Transcr. at gene 5' and 3'	A549	lung
22	chr19:52189400-52189800	Enhancers	HSMMtube	muscle
23	chr19:52189400-52190000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:52189400-52190000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:52189400-52190600	Enhancers	HMEC	breast
26	chr19:52189400-52190600	Enhancers	NHLF	lung
27	chr19:52189400-52190800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:52189400-52190800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr19:52189400-52190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:52189400-52190800	Enhancers	HSMM	muscle
31	chr19:52189400-52191000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr19:52189600-52189800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:52189600-52189800	Enhancers	Esophagus	oesophagus
34	chr19:52189600-52189800	Enhancers	Placenta	Placenta
35	chr19:52189600-52189800	Enhancers	Left Ventricle	heart
36	chr19:52189600-52189800	Enhancers	Right Ventricle	heart
37	chr19:52189600-52189800	Enhancers	NH-A	brain
38	chr19:52189600-52189800	Enhancers	NHEK	skin
39	chr19:52189600-52190000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:52189600-52190600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:52189600-52190600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:52189600-52190800	Enhancers	Placenta Amnion	Placenta Amnion

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