Variant report

Variant	rs4864708
Chromosome Location	chr4:53864533-53864534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11133241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1351709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301091	1.00[AMR][1000 genomes]
rs301094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301105	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs403547	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4293841	0.96[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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53850400-53864600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:53850400-53869600	Weak transcription	GM12878-XiMat	blood
3	chr4:53857800-53870200	Weak transcription	Psoas Muscle	Psoas
4	chr4:53859600-53867200	Enhancers	Ovary	ovary
5	chr4:53859800-53864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:53860000-53864600	Enhancers	Fetal Muscle Leg	muscle
7	chr4:53860000-53864600	Enhancers	Pancreas	Pancrea
8	chr4:53861400-53864600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:53861400-53864600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:53861400-53864600	Enhancers	Left Ventricle	heart
11	chr4:53861600-53866600	Enhancers	Fetal Lung	lung
12	chr4:53862400-53864600	Enhancers	Right Ventricle	heart
13	chr4:53862400-53871400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:53862600-53866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:53862600-53866000	Weak transcription	Spleen	Spleen
16	chr4:53862600-53873000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:53862800-53865000	Enhancers	Right Atrium	heart
18	chr4:53863000-53865800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:53863400-53877800	Weak transcription	Gastric	stomach
20	chr4:53863400-53878000	Weak transcription	NH-A	brain
21	chr4:53863400-53878200	Weak transcription	Fetal Intestine Small	intestine
22	chr4:53863800-53870800	Weak transcription	Lung	lung
23	chr4:53863800-53876600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:53864000-53864600	Enhancers	Fetal Kidney	kidney
25	chr4:53864000-53865600	Weak transcription	HepG2	liver
26	chr4:53864000-53869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:53864000-53869800	Weak transcription	Osteobl	bone
28	chr4:53864000-53871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:53864000-53877800	Weak transcription	NHDF-Ad	bronchial
30	chr4:53864200-53864600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:53864200-53864800	Enhancers	Fetal Heart	heart
32	chr4:53864200-53864800	Weak transcription	Placenta	Placenta
33	chr4:53864200-53865000	Enhancers	Fetal Thymus	thymus
34	chr4:53864200-53869600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:53864200-53875800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:53864400-53877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:53864400-53877600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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