Variant report

Variant	rs4571301
Chromosome Location	chr4:48156264-48156265
allele	A/G
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:7)

rs_ID	r²[population]
rs13136882	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35054707	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4146007	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4695338	0.98[ASN][1000 genomes]
rs4695345	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58924403	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7693779	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
4	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:48138400-48157400	Weak transcription	Aorta	Aorta
7	chr4:48139200-48157600	Weak transcription	Gastric	stomach
8	chr4:48139200-48159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:48140200-48157400	Weak transcription	Pancreas	Pancrea
10	chr4:48143000-48157600	Weak transcription	Fetal Thymus	thymus
11	chr4:48143000-48157600	Weak transcription	Thymus	Thymus
12	chr4:48144800-48157200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:48150000-48164000	Weak transcription	Hela-S3	cervix
14	chr4:48152400-48157200	Weak transcription	Fetal Heart	heart
15	chr4:48152600-48156800	Weak transcription	Liver	Liver
16	chr4:48152600-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:48152600-48157200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:48152600-48163200	Weak transcription	HSMMtube	muscle
19	chr4:48152600-48164000	Weak transcription	HSMM	muscle
20	chr4:48153000-48160400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr4:48155200-48158800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr4:48155200-48159400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:48155400-48158600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr4:48155400-48159600	ZNF genes & repeats	GM12878-XiMat	blood
25	chr4:48155400-48160000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:48155600-48156400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:48155600-48156400	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr4:48155600-48158400	ZNF genes & repeats	Psoas Muscle	Psoas
29	chr4:48155800-48156400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:48155800-48158400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr4:48155800-48158400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr4:48155800-48158400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr4:48155800-48158400	ZNF genes & repeats	K562	blood
34	chr4:48155800-48158800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr4:48155800-48158800	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr4:48155800-48158800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:48155800-48159400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:48156000-48156800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:48156000-48157400	Weak transcription	Left Ventricle	heart
40	chr4:48156000-48157600	Weak transcription	Lung	lung
41	chr4:48156000-48157600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:48156000-48159600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr4:48156000-48168000	Weak transcription	Esophagus	oesophagus
44	chr4:48156200-48157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:48156200-48157400	Strong transcription	Adipose Nuclei	Adipose

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