Variant report

Variant	rs73059451
Chromosome Location	chr19:57131909-57131910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:57130300..57133010-chr19:57135444..57137071,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11667653	1.00[ASN][1000 genomes]
rs1468773	1.00[ASN][1000 genomes]
rs16987303	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1062806	chr19:57050734-57191914	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv912520	chr19:57126728-57160515	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv580388	chr19:57131436-57203105	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57107800-57137200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:57108000-57132200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:57111800-57137400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:57111800-57139600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:57112000-57134800	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:57112000-57136600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr19:57112000-57137200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr19:57112000-57137400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:57112000-57137400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:57112000-57138600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr19:57112200-57137000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
12	chr19:57112200-57137200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:57113600-57132200	Weak transcription	Right Ventricle	heart
14	chr19:57118200-57132400	Weak transcription	Brain Angular Gyrus	brain
15	chr19:57119800-57136400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr19:57120600-57135800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
17	chr19:57121000-57137400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
18	chr19:57121800-57132400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:57122800-57133200	Weak transcription	Psoas Muscle	Psoas
20	chr19:57124800-57132600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:57125400-57132600	Weak transcription	Brain Anterior Caudate	brain
22	chr19:57126200-57132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:57126800-57133000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:57127600-57136600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:57127600-57137200	ZNF genes & repeats	Liver	Liver
26	chr19:57127800-57134000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
27	chr19:57127800-57136800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:57127800-57137200	ZNF genes & repeats	Lung	lung
29	chr19:57127800-57137200	ZNF genes & repeats	Ovary	ovary
30	chr19:57127800-57137400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:57127800-57137400	ZNF genes & repeats	Aorta	Aorta
32	chr19:57127800-57139400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:57128000-57132400	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:57128000-57135800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr19:57128000-57137200	ZNF genes & repeats	Thymus	Thymus
36	chr19:57128000-57137800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:57128200-57132600	Weak transcription	Left Ventricle	heart
38	chr19:57128200-57132800	Weak transcription	Osteobl	bone
39	chr19:57128200-57133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:57128200-57137200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:57128800-57134000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr19:57128800-57137200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr19:57128800-57137200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:57129000-57134200	ZNF genes & repeats	Gastric	stomach
45	chr19:57129000-57134400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:57129000-57134600	ZNF genes & repeats	Brain Germinal Matrix	brain
47	chr19:57129000-57134600	ZNF genes & repeats	Esophagus	oesophagus
48	chr19:57129000-57134800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
49	chr19:57129000-57137000	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr19:57129000-57137200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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