Variant report

Variant	rs28473188
Chromosome Location	chr4:119612454-119612455
allele	A/T
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	CEBPB	chr4:119612263-119612489	K562	blood:	n/a	n/a

Variant related genes	Relation type
METTL14	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10016306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579392	0.81[AFR][1000 genomes]
rs28736670	0.94[AFR][1000 genomes]
rs28854838	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9985565	0.94[AFR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119615800	Weak transcription	Esophagus	oesophagus
3	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:119607400-119613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:119607600-119613000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:119607600-119615800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:119607800-119613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:119607800-119615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:119607800-119615800	Weak transcription	Psoas Muscle	Psoas
10	chr4:119607800-119618000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:119607800-119625600	Weak transcription	Aorta	Aorta
12	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:119608000-119618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:119608400-119612600	Weak transcription	NHDF-Ad	bronchial
16	chr4:119608400-119613200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:119608400-119613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:119608400-119613600	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:119608400-119613800	Weak transcription	Brain Germinal Matrix	brain
20	chr4:119608400-119615600	Weak transcription	A549	lung
21	chr4:119608400-119615800	Weak transcription	NHLF	lung
22	chr4:119608400-119618600	Weak transcription	Brain Substantia Nigra	brain
23	chr4:119608600-119612600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:119608600-119612800	Weak transcription	K562	blood
25	chr4:119608600-119618400	Weak transcription	Colonic Mucosa	Colon
26	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
27	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
29	chr4:119608800-119613000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:119608800-119613200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:119608800-119613200	Weak transcription	GM12878-XiMat	blood
32	chr4:119608800-119613600	Weak transcription	Brain Angular Gyrus	brain
33	chr4:119608800-119613800	Weak transcription	HMEC	breast
34	chr4:119608800-119618000	Weak transcription	Hela-S3	cervix
35	chr4:119608800-119625400	Weak transcription	HSMMtube	muscle
36	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:119609000-119614600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:119609000-119614600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:119609000-119615600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:119609000-119620000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:119609000-119620400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr4:119609000-119620800	Strong transcription	Liver	Liver
43	chr4:119609000-119621200	Strong transcription	Osteobl	bone
44	chr4:119609000-119622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:119609000-119628200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:119609000-119633200	Strong transcription	Placenta	Placenta
47	chr4:119609000-119633400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:119609000-119633400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:119609000-119633800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:119609000-119634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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