Variant report

Variant	rs73558239
Chromosome Location	chr19:44570169-44570170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44568849..44570998-chr19:44573631..44576301,2	K562	blood:

Variant related genes	Relation type
ENSG00000186026	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10404927	1.00[EUR][1000 genomes]
rs10406116	1.00[EUR][1000 genomes]
rs10406704	1.00[EUR][1000 genomes]
rs10415104	1.00[EUR][1000 genomes]
rs10416624	1.00[EUR][1000 genomes]
rs10417182	1.00[EUR][1000 genomes]
rs10423177	1.00[EUR][1000 genomes]
rs13345528	1.00[EUR][1000 genomes]
rs28462219	1.00[EUR][1000 genomes]
rs28818931	1.00[EUR][1000 genomes]
rs57369690	1.00[EUR][1000 genomes]
rs60852988	1.00[EUR][1000 genomes]
rs61185843	1.00[EUR][1000 genomes]
rs73553212	1.00[EUR][1000 genomes]
rs73553217	1.00[EUR][1000 genomes]
rs73553253	1.00[EUR][1000 genomes]
rs73554168	1.00[AFR][1000 genomes]
rs73564027	1.00[EUR][1000 genomes]
rs73564035	1.00[EUR][1000 genomes]
rs73564041	1.00[EUR][1000 genomes]
rs73564053	1.00[EUR][1000 genomes]
rs73564075	1.00[EUR][1000 genomes]
rs73564084	1.00[EUR][1000 genomes]
rs73564093	1.00[EUR][1000 genomes]
rs73567972	1.00[EUR][1000 genomes]
rs73567974	1.00[EUR][1000 genomes]
rs73569942	1.00[EUR][1000 genomes]
rs8107948	1.00[EUR][1000 genomes]
rs8113493	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44557000-44570200	Weak transcription	HUVEC	blood vessel
2	chr19:44557000-44570200	Weak transcription	NHDF-Ad	bronchial
3	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44557400-44570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:44558200-44571800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
8	chr19:44558800-44572800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr19:44561800-44570400	Strong transcription	Right Ventricle	heart
10	chr19:44561800-44572000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:44561800-44572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:44562600-44570800	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr19:44563600-44572200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:44564800-44570200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:44565600-44572200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:44565600-44572200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:44566000-44570200	Weak transcription	HepG2	liver
18	chr19:44566600-44572200	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr19:44566800-44572000	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr19:44566800-44572000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:44566800-44572200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:44567200-44571800	ZNF genes & repeats	Aorta	Aorta
23	chr19:44567200-44572000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:44567400-44571000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr19:44567400-44571400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:44567400-44573000	ZNF genes & repeats	Fetal Lung	lung
27	chr19:44567600-44571400	ZNF genes & repeats	Small Intestine	intestine
28	chr19:44567800-44570200	Weak transcription	NHEK	skin
29	chr19:44567800-44572600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
30	chr19:44568000-44570200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:44568000-44575400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:44568200-44571800	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr19:44568200-44571800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr19:44568800-44571200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr19:44568800-44571400	ZNF genes & repeats	Spleen	Spleen
36	chr19:44568800-44571800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr19:44568800-44572000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr19:44568800-44572000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr19:44568800-44572000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:44568800-44572200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr19:44568800-44572200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:44568800-44572600	ZNF genes & repeats	Ovary	ovary
43	chr19:44568800-44573000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:44568800-44574000	ZNF genes & repeats	Fetal Brain Female	brain
45	chr19:44569000-44570400	ZNF genes & repeats	Fetal Thymus	thymus
46	chr19:44569000-44571800	ZNF genes & repeats	Pancreas	Pancrea
47	chr19:44569000-44572000	ZNF genes & repeats	HSMMtube	muscle
48	chr19:44569000-44572000	ZNF genes & repeats	Osteobl	bone
49	chr19:44569000-44572200	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr19:44569000-44572200	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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