Variant report

Variant	rs415913
Chromosome Location	chr19:44498590-44498591
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	chr19:44488126..44490498-chr19:44497141..44499230,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204920	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11669568	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11670772	0.84[EUR][1000 genomes]
rs11672879	0.87[EUR][1000 genomes]
rs36044624	0.83[EUR][1000 genomes]
rs365745	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs367358	0.83[EUR][1000 genomes]
rs380242	0.83[EUR][1000 genomes]
rs425200	0.83[EUR][1000 genomes]
rs436788	0.83[EUR][1000 genomes]
rs437058	0.83[EUR][1000 genomes]
rs437067	0.83[EUR][1000 genomes]
rs441794	0.83[EUR][1000 genomes]
rs442679	0.83[EUR][1000 genomes]
rs445265	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs452238	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs454218	0.83[EUR][1000 genomes]
rs458647	0.83[EUR][1000 genomes]
rs460071	0.83[EUR][1000 genomes]
rs462417	0.83[EUR][1000 genomes]
rs55750317	0.82[EUR][1000 genomes]
rs58591332	0.85[EUR][1000 genomes]
rs612663	0.86[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	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44500400	Weak transcription	HUVEC	blood vessel
2	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
4	chr19:44489600-44506200	Weak transcription	HepG2	liver
5	chr19:44491000-44500200	Strong transcription	Fetal Lung	lung
6	chr19:44491000-44501600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
9	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:44491600-44500000	Strong transcription	Primary T cells from cord blood	blood
11	chr19:44491600-44501800	Strong transcription	Brain Hippocampus Middle	brain
12	chr19:44491800-44502200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:44492000-44502000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:44492200-44499600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:44492200-44500200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr19:44492200-44500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:44492200-44501400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:44492400-44499200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:44492400-44501000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:44492400-44501400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:44492400-44501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:44492400-44501800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr19:44492400-44501800	Strong transcription	Brain Cingulate Gyrus	brain
24	chr19:44492400-44502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:44492400-44502200	Strong transcription	Fetal Intestine Large	intestine
26	chr19:44492400-44502200	Strong transcription	HSMM	muscle
27	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:44492600-44498600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:44492600-44499600	Strong transcription	Left Ventricle	heart
32	chr19:44492600-44500200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:44492600-44500200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr19:44492600-44500200	Strong transcription	Fetal Muscle Leg	muscle
35	chr19:44492600-44500400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:44492600-44501200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:44492600-44501600	Strong transcription	Thymus	Thymus
38	chr19:44492600-44502000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:44492600-44502200	Strong transcription	Dnd41	blood
40	chr19:44492600-44502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:44492600-44502400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:44492600-44502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:44492800-44499200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr19:44492800-44499200	Strong transcription	Fetal Brain Female	brain
45	chr19:44492800-44500200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:44492800-44500400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr19:44492800-44501400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:44492800-44502000	Strong transcription	Brain Substantia Nigra	brain
49	chr19:44492800-44502000	Strong transcription	Fetal Thymus	thymus
50	chr19:44492800-44502000	Strong transcription	HSMMtube	muscle

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