Variant report

Variant	rs73552823
Chromosome Location	chr19:42581791-42581792
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42362719..42367011-chr19:42578185..42581831,5	K562	blood:
2	chr19:42580276..42583237-chr19:42757851..42759811,2	K562	blood:
3	chr19:42579835..42581809-chr19:42805426..42808329,2	K562	blood:
4	chr19:42362802..42365669-chr19:42579542..42583856,4	MCF-7	breast:
5	chr19:42462261..42465397-chr19:42579731..42582911,4	MCF-7	breast:
6	chr19:42568861..42574784-chr19:42577207..42582012,11	K562	blood:

Variant related genes	Relation type
ENSG00000105722	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000105737	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000105404	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1152712	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv12493	chr19:42579999-42582314	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a
7	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42579000-42582000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:42579000-42582200	Active TSS	HSMM	muscle
3	chr19:42579000-42582600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:42579200-42581800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:42579200-42582000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:42579200-42582000	Active TSS	HSMMtube	muscle
7	chr19:42579600-42581800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:42579600-42581800	Active TSS	NHDF-Ad	bronchial
9	chr19:42579800-42581800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:42579800-42582000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:42580000-42582200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:42580600-42582000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr19:42580800-42581800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr19:42580800-42581800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:42580800-42581800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr19:42580800-42581800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:42580800-42581800	Flanking Active TSS	Fetal Brain Male	brain
18	chr19:42580800-42581800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr19:42580800-42581800	Flanking Active TSS	Thymus	Thymus
20	chr19:42580800-42582000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:42580800-42582000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:42580800-42582000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr19:42580800-42582000	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr19:42580800-42582200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:42580800-42582200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:42580800-42582200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr19:42580800-42582400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr19:42581000-42581800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:42581000-42581800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr19:42581000-42581800	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr19:42581000-42581800	Flanking Active TSS	Osteobl	bone
32	chr19:42581000-42582000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:42581000-42582000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:42581000-42582000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:42581000-42582000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr19:42581000-42582000	Flanking Active TSS	Dnd41	blood
37	chr19:42581000-42582000	Flanking Active TSS	K562	blood
38	chr19:42581000-42582200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:42581000-42582200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr19:42581000-42582200	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr19:42581000-42582200	Flanking Active TSS	Fetal Brain Female	brain
42	chr19:42581000-42582400	Enhancers	Small Intestine	intestine
43	chr19:42581200-42581800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:42581200-42582000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:42581200-42582000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr19:42581200-42582000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:42581200-42582000	Enhancers	Aorta	Aorta
48	chr19:42581200-42582000	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr19:42581200-42582000	Flanking Active TSS	HMEC	breast
50	chr19:42581200-42582000	Flanking Active TSS	HUVEC	blood vessel

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