Variant report

Variant	rs388471
Chromosome Location	chr19:44501227-44501228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF45-2	chr19:44501048-44503384	ENSG00000266921.1
2	lnc-ZNF45-2	chr19:44501048-44502536	NONHSAT066650
3	lnc-ZNF45-2	chr19:44501051-44501947	ENSG00000266921.1

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs369083	0.83[EUR][1000 genomes]
rs379238	0.83[EUR][1000 genomes]
rs379612	0.83[EUR][1000 genomes]
rs388812	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs448921	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs452554	0.83[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
3	chr19:44489600-44506200	Weak transcription	HepG2	liver
4	chr19:44491000-44501600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
7	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr19:44491600-44501800	Strong transcription	Brain Hippocampus Middle	brain
9	chr19:44491800-44502200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:44492000-44502000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:44492200-44501400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:44492400-44501400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:44492400-44501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:44492400-44501800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr19:44492400-44501800	Strong transcription	Brain Cingulate Gyrus	brain
16	chr19:44492400-44502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:44492400-44502200	Strong transcription	Fetal Intestine Large	intestine
18	chr19:44492400-44502200	Strong transcription	HSMM	muscle
19	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:44492600-44501600	Strong transcription	Thymus	Thymus
23	chr19:44492600-44502000	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:44492600-44502200	Strong transcription	Dnd41	blood
25	chr19:44492600-44502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:44492600-44502400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:44492600-44502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:44492800-44501400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:44492800-44502000	Strong transcription	Brain Substantia Nigra	brain
30	chr19:44492800-44502000	Strong transcription	Fetal Thymus	thymus
31	chr19:44492800-44502000	Strong transcription	HSMMtube	muscle
32	chr19:44492800-44502200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:44493000-44501600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:44493200-44501800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:44493200-44501800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:44493200-44501800	Strong transcription	Placenta	Placenta
37	chr19:44493200-44501800	Strong transcription	Fetal Stomach	stomach
38	chr19:44493200-44502200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:44493400-44501600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:44493400-44501800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:44493400-44502000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:44493400-44502400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:44493600-44502200	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr19:44494400-44502000	Strong transcription	Right Ventricle	heart
45	chr19:44495000-44501400	Strong transcription	Primary B cells from cord blood	blood
46	chr19:44496600-44503200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:44498400-44502400	Strong transcription	Psoas Muscle	Psoas

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