Variant report

Variant	rs566063247
Chromosome Location	chr4:48151971-48151972
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48148512..48152752-chr4:48153089..48156542,4	K562	blood:

Variant related genes	Relation type
ENSG00000202014	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
4	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
7	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:48133000-48153000	Weak transcription	Placenta	Placenta
10	chr4:48137800-48153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:48138400-48157400	Weak transcription	Aorta	Aorta
12	chr4:48138600-48155800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:48139200-48154600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:48139200-48155600	Weak transcription	Fetal Intestine Large	intestine
15	chr4:48139200-48157600	Weak transcription	Gastric	stomach
16	chr4:48139200-48159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:48139800-48155400	Weak transcription	Spleen	Spleen
18	chr4:48139800-48155800	Weak transcription	Lung	lung
19	chr4:48140200-48157400	Weak transcription	Pancreas	Pancrea
20	chr4:48141000-48152200	Weak transcription	Left Ventricle	heart
21	chr4:48141000-48155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:48141200-48155400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:48141800-48155600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:48142400-48155600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:48142600-48155400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:48142800-48152200	Strong transcription	GM12878-XiMat	blood
27	chr4:48143000-48152200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:48143000-48155800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:48143000-48157600	Weak transcription	Fetal Thymus	thymus
30	chr4:48143000-48157600	Weak transcription	Thymus	Thymus
31	chr4:48143200-48155600	Weak transcription	Primary T cells from cord blood	blood
32	chr4:48144000-48155400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:48144400-48155800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:48144800-48157200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:48146600-48156000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr4:48147600-48155600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:48147600-48155600	Weak transcription	Esophagus	oesophagus
38	chr4:48147800-48153000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:48147800-48155600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:48148000-48155600	Weak transcription	Primary B cells from cord blood	blood
41	chr4:48150000-48164000	Weak transcription	Hela-S3	cervix
42	chr4:48150400-48152600	Strong transcription	Liver	Liver
43	chr4:48151400-48152600	Enhancers	HSMMtube	muscle
44	chr4:48151400-48152600	Strong transcription	K562	blood
45	chr4:48151400-48155800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:48151600-48152000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:48151600-48152200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:48151600-48152400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:48151600-48152400	Enhancers	Fetal Heart	heart
50	chr4:48151600-48152600	Strong transcription	Rectal Mucosa Donor 29	rectum

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