Variant report

Variant	rs443524
Chromosome Location	chr19:44420749-44420750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs239941	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs239945	0.91[AFR][1000 genomes]
rs396063	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs400319	0.91[AFR][1000 genomes]
rs408926	1.00[AFR][1000 genomes]
rs420242	1.00[AFR][1000 genomes]
rs431247	1.00[AFR][1000 genomes]
rs432559	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs444350	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7254658	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44404000-44434800	ZNF genes & repeats	Liver	Liver
2	chr19:44406800-44427400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44407400-44427600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:44412000-44434800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44412400-44426000	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:44414200-44431400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44415200-44425000	ZNF genes & repeats	Fetal Lung	lung
8	chr19:44415600-44421000	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr19:44415600-44424200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:44415600-44426800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:44415800-44421000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
12	chr19:44415800-44421000	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr19:44415800-44425200	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr19:44416000-44421400	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr19:44416000-44423200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:44416000-44426200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:44416200-44420800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:44416200-44421000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr19:44416200-44421000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:44416200-44421200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr19:44416200-44422600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:44416200-44424000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr19:44416200-44426000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:44416200-44427400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:44416600-44421200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr19:44416600-44421400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:44416600-44429400	ZNF genes & repeats	A549	lung
28	chr19:44416800-44420800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:44416800-44420800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
30	chr19:44416800-44421000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr19:44416800-44421000	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr19:44416800-44421000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
33	chr19:44416800-44421200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr19:44416800-44421400	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr19:44416800-44423800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:44416800-44425000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr19:44416800-44427400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:44417000-44421000	ZNF genes & repeats	Osteobl	bone
39	chr19:44417000-44423800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:44417000-44425200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr19:44417000-44425600	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr19:44417000-44429600	ZNF genes & repeats	GM12878-XiMat	blood
43	chr19:44417000-44437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:44417200-44420800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:44417200-44421000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr19:44417200-44421000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr19:44417200-44421000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr19:44417200-44421000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
49	chr19:44417200-44421000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr19:44417200-44425200	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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