Variant report

Variant	rs452143
Chromosome Location	chr19:44437179-44437180
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44425735..44428622-chr19:44435247..44437442,2	MCF-7	breast:
2	chr19:44435828..44438682-chr19:44451938..44454086,2	K562	blood:

Variant related genes	Relation type
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs364378	0.87[AMR][1000 genomes]
rs364693	0.87[AMR][1000 genomes]
rs365769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs367056	0.89[AMR][1000 genomes]
rs367241	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs373043	0.89[AMR][1000 genomes]
rs376769	0.87[AMR][1000 genomes]
rs379722	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs382715	0.87[AMR][1000 genomes]
rs384432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs393403	0.85[AFR][1000 genomes]
rs393473	0.85[AFR][1000 genomes]
rs395143	0.87[AMR][1000 genomes]
rs424364	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs441225	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs442934	0.89[AMR][1000 genomes]
rs446072	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs453611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs461374	0.87[AMR][1000 genomes]
rs465860	0.87[AMR][1000 genomes]
rs8101844	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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	chr19:44417000-44437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:44418600-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:44419400-44438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44420000-44437200	Strong transcription	Placenta	Placenta
5	chr19:44420000-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:44420000-44437800	Strong transcription	HSMM	muscle
7	chr19:44420200-44437200	Strong transcription	HSMMtube	muscle
8	chr19:44420200-44437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:44420400-44437400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:44420400-44438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:44420600-44437200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:44420600-44437200	Strong transcription	Fetal Thymus	thymus
13	chr19:44420600-44437400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:44420600-44437600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:44420800-44437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:44421000-44437200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:44421000-44437400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:44421000-44438200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:44421000-44438200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:44421200-44437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:44421400-44437200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:44421400-44437600	Strong transcription	Brain Substantia Nigra	brain
23	chr19:44422400-44437200	Strong transcription	Brain Angular Gyrus	brain
24	chr19:44422600-44437400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:44422800-44437400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr19:44423800-44437200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr19:44423800-44437400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr19:44424000-44437200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr19:44424000-44438600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:44424400-44437600	Strong transcription	Fetal Muscle Leg	muscle
31	chr19:44425000-44437400	Strong transcription	Fetal Intestine Large	intestine
32	chr19:44425000-44437400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:44425200-44437400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:44425200-44437400	Strong transcription	Brain Germinal Matrix	brain
35	chr19:44425400-44437200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:44425400-44437400	Strong transcription	Primary B cells from cord blood	blood
37	chr19:44425400-44437600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:44426000-44437400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:44426200-44437400	Strong transcription	Left Ventricle	heart
40	chr19:44426200-44437600	Strong transcription	Fetal Stomach	stomach
41	chr19:44426600-44437600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:44426600-44438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:44427800-44437200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:44428200-44437200	Strong transcription	Thymus	Thymus
45	chr19:44428800-44437200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr19:44429400-44437400	Strong transcription	Fetal Lung	lung
47	chr19:44429400-44438200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:44429600-44437400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:44429600-44437800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:44429600-44438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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