Variant report

Variant	rs450880
Chromosome Location	chr19:44427764-44427765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44422036..44423968-chr19:44427404..44429105,2	K562	blood:

Variant related genes	Relation type
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12459186	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs189445	0.85[JPT][hapmap]
rs2195980	0.86[JPT][hapmap]
rs349026	0.81[JPT][hapmap]
rs349027	0.80[JPT][hapmap]
rs349035	0.86[JPT][hapmap]
rs349036	0.85[JPT][hapmap]
rs349037	0.86[JPT][hapmap]
rs443389	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][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:126 , 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	chr19:44412000-44434800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44414200-44431400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:44416600-44429400	ZNF genes & repeats	A549	lung
5	chr19:44417000-44429600	ZNF genes & repeats	GM12878-XiMat	blood
6	chr19:44417000-44437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:44417400-44427800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr19:44418400-44432600	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr19:44418600-44431600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:44418600-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:44418800-44431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:44419400-44431600	Strong transcription	Right Ventricle	heart
13	chr19:44419400-44438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:44420000-44435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:44420000-44437200	Strong transcription	Placenta	Placenta
16	chr19:44420000-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:44420000-44437800	Strong transcription	HSMM	muscle
18	chr19:44420200-44428400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:44420200-44437200	Strong transcription	HSMMtube	muscle
20	chr19:44420200-44437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:44420400-44437400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:44420400-44438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:44420600-44437000	Strong transcription	Dnd41	blood
24	chr19:44420600-44437200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:44420600-44437200	Strong transcription	Fetal Thymus	thymus
26	chr19:44420600-44437400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:44420600-44437600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:44420800-44436200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:44420800-44437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:44421000-44428400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:44421000-44429800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr19:44421000-44431600	Strong transcription	Osteobl	bone
33	chr19:44421000-44431800	Strong transcription	Brain Cingulate Gyrus	brain
34	chr19:44421000-44437000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:44421000-44437000	Strong transcription	Brain Anterior Caudate	brain
36	chr19:44421000-44437200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:44421000-44437400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:44421000-44438200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr19:44421000-44438200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:44421200-44437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:44421400-44437200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:44421400-44437600	Strong transcription	Brain Substantia Nigra	brain
43	chr19:44421600-44433400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:44422000-44437000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr19:44422400-44437200	Strong transcription	Brain Angular Gyrus	brain
46	chr19:44422600-44437400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:44422800-44437400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:44423200-44437000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:44423400-44433200	Weak transcription	Stomach Mucosa	stomach
50	chr19:44423600-44437000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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