Variant report

Variant	rs452554
Chromosome Location	chr19:44503379-44503380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr19:44503313-44503387	MCF10A-Er-Src	breast:	n/a	n/a
2	SETDB1	chr19:44503348-44503529	U2OS	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF45-2	chr19:44501048-44503384	ENSG00000266921.1
2	lnc-ZNF45-2	chr19:44502551-44503384	NONHSAT066650
3	lnc-ZNF45-2	chr19:44502675-44503384	ENSG00000266921.1

Variant related genes	Relation type
ZNF230	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs369083	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs379238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs379612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs388471	0.83[EUR][1000 genomes]
rs388812	1.00[EUR][1000 genomes]
rs448921	1.00[EUR][1000 genomes]
rs453944	0.84[AMR][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:86 , 50 per page) page: 1 2

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	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
6	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
11	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
12	chr19:44499200-44506200	Weak transcription	NHLF	lung
13	chr19:44501000-44506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:44501000-44506200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:44501000-44506200	Weak transcription	Brain Anterior Caudate	brain
16	chr19:44501000-44506400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:44501000-44506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:44501200-44506000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:44501200-44506000	Weak transcription	Spleen	Spleen
20	chr19:44501200-44506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:44501200-44506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:44501200-44506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:44501200-44506200	Weak transcription	Brain Angular Gyrus	brain
24	chr19:44501200-44506200	Weak transcription	HUVEC	blood vessel
25	chr19:44501200-44506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:44501200-44506400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:44501200-44506400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:44501200-44506400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:44501400-44506200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:44501400-44506200	Weak transcription	Primary B cells from cord blood	blood
31	chr19:44501400-44506200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:44501400-44506200	Weak transcription	Fetal Kidney	kidney
33	chr19:44501400-44506200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr19:44501400-44506200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:44501600-44506000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:44501600-44506000	Weak transcription	Fetal Brain Male	brain
37	chr19:44501600-44506200	Weak transcription	Thymus	Thymus
38	chr19:44501600-44506200	Weak transcription	Osteobl	bone
39	chr19:44501600-44506400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:44501800-44503800	Weak transcription	GM12878-XiMat	blood
41	chr19:44501800-44506000	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:44501800-44506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:44501800-44506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:44501800-44506200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:44501800-44506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:44501800-44506200	Weak transcription	Fetal Lung	lung
47	chr19:44501800-44506200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:44501800-44506400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr19:44501800-44506400	Weak transcription	Colonic Mucosa	Colon
50	chr19:44501800-44506400	Weak transcription	Placenta	Placenta

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