Variant report

Variant	rs28854838
Chromosome Location	chr4:119614245-119614246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10016306	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28473188	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579392	0.87[AFR][1000 genomes]
rs28736670	1.00[AFR][1000 genomes]
rs9985565	1.00[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	chr4:119607600-119615800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:119607800-119615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:119607800-119615800	Weak transcription	Psoas Muscle	Psoas
7	chr4:119607800-119618000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:119607800-119625600	Weak transcription	Aorta	Aorta
9	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:119608000-119618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:119608400-119615600	Weak transcription	A549	lung
13	chr4:119608400-119615800	Weak transcription	NHLF	lung
14	chr4:119608400-119618600	Weak transcription	Brain Substantia Nigra	brain
15	chr4:119608600-119618400	Weak transcription	Colonic Mucosa	Colon
16	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
17	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
19	chr4:119608800-119618000	Weak transcription	Hela-S3	cervix
20	chr4:119608800-119625400	Weak transcription	HSMMtube	muscle
21	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:119609000-119614600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:119609000-119614600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:119609000-119615600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:119609000-119620000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:119609000-119620400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr4:119609000-119620800	Strong transcription	Liver	Liver
28	chr4:119609000-119621200	Strong transcription	Osteobl	bone
29	chr4:119609000-119622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:119609000-119628200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:119609000-119633200	Strong transcription	Placenta	Placenta
32	chr4:119609000-119633400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:119609000-119633400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:119609000-119633800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:119609000-119634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:119609000-119634800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:119609000-119635000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:119609000-119635000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr4:119609000-119636000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:119609000-119636200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr4:119609200-119614600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:119609200-119615600	Weak transcription	NHEK	skin
43	chr4:119609200-119620600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:119609200-119623400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:119609200-119633400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:119609200-119634400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr4:119609200-119634800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:119609200-119635600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:119609200-119635600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:119609200-119635800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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