Variant report

Variant	rs73564075
Chromosome Location	chr19:44673609-44673610
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	chr19:44668674..44671221-chr19:44672001..44674509,3	K562	blood:

Variant related genes	Relation type
ENSG00000167380	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10404357	1.00[EUR][1000 genomes]
rs10404927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[AMR][1000 genomes]
rs13345528	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978966	1.00[AMR][1000 genomes]
rs28462219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28818931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493848	1.00[AMR][1000 genomes]
rs34863330	1.00[AMR][1000 genomes]
rs57369690	1.00[EUR][1000 genomes]
rs58935748	1.00[AMR][1000 genomes]
rs59897069	1.00[AMR][1000 genomes]
rs60852988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61185843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[AMR][1000 genomes]
rs73553212	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553253	1.00[EUR][1000 genomes]
rs73555119	1.00[EUR][1000 genomes]
rs73556274	1.00[AMR][1000 genomes]
rs73558239	1.00[EUR][1000 genomes]
rs73558248	1.00[AMR][1000 genomes]
rs73558286	1.00[AMR][1000 genomes]
rs73558298	1.00[AMR][1000 genomes]
rs73558301	1.00[AMR][1000 genomes]
rs73562181	1.00[AMR][1000 genomes]
rs73562187	1.00[AMR][1000 genomes]
rs73562192	1.00[AMR][1000 genomes]
rs73562196	1.00[AMR][1000 genomes]
rs73564027	1.00[EUR][1000 genomes]
rs73564035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73569942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113493	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44670000-44677000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44670200-44675600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:44670200-44676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44670400-44674600	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:44670400-44675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:44670400-44675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:44670400-44675800	Strong transcription	Rectal Smooth Muscle	rectum
8	chr19:44670400-44680200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:44670600-44673800	Strong transcription	Fetal Stomach	stomach
10	chr19:44670600-44673800	Strong transcription	HSMM	muscle
11	chr19:44670600-44674600	Strong transcription	NHEK	skin
12	chr19:44670600-44675600	Weak transcription	HepG2	liver
13	chr19:44670600-44678800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:44670600-44679000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:44670600-44681600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:44670600-44688200	ZNF genes & repeats	Liver	Liver
17	chr19:44670800-44673800	Strong transcription	Left Ventricle	heart
18	chr19:44670800-44674200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
19	chr19:44670800-44674200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr19:44670800-44674200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
21	chr19:44670800-44674400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:44670800-44674400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:44670800-44674400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr19:44670800-44674400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:44670800-44674400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:44670800-44674400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:44670800-44674400	ZNF genes & repeats	Fetal Lung	lung
28	chr19:44670800-44674400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr19:44670800-44674400	ZNF genes & repeats	A549	lung
30	chr19:44670800-44674600	ZNF genes & repeats	GM12878-XiMat	blood
31	chr19:44670800-44675800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:44670800-44677000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:44670800-44677000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:44670800-44677000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:44670800-44678000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:44670800-44678000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:44670800-44678400	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr19:44670800-44678800	Strong transcription	Osteobl	bone
39	chr19:44670800-44679000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr19:44670800-44679400	Strong transcription	NH-A	brain
41	chr19:44670800-44679600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:44670800-44679800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:44670800-44680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:44670800-44680200	Strong transcription	HSMMtube	muscle
45	chr19:44670800-44680400	Strong transcription	Fetal Thymus	thymus
46	chr19:44670800-44681200	ZNF genes & repeats	Ovary	ovary
47	chr19:44670800-44681800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:44670800-44682000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr19:44670800-44682000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr19:44670800-44682200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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