Variant report

Variant	rs544820405
Chromosome Location	chr4:48153257-48153258
allele	G/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	POLR2A	chr4:48153043-48153314	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48152941..48154960-chr4:48160415..48162410,2	K562	blood:

Variant related genes	Relation type
TEC	TF binding region
ENSG00000202014	TF binding region

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:49 , 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	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
3	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
4	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
6	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:48137800-48153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:48138400-48157400	Weak transcription	Aorta	Aorta
10	chr4:48138600-48155800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:48139200-48154600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:48139200-48155600	Weak transcription	Fetal Intestine Large	intestine
13	chr4:48139200-48157600	Weak transcription	Gastric	stomach
14	chr4:48139200-48159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:48139800-48155400	Weak transcription	Spleen	Spleen
16	chr4:48139800-48155800	Weak transcription	Lung	lung
17	chr4:48140200-48157400	Weak transcription	Pancreas	Pancrea
18	chr4:48141000-48155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:48141200-48155400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:48141800-48155600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:48142400-48155600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:48142600-48155400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:48143000-48155800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:48143000-48157600	Weak transcription	Fetal Thymus	thymus
25	chr4:48143000-48157600	Weak transcription	Thymus	Thymus
26	chr4:48143200-48155600	Weak transcription	Primary T cells from cord blood	blood
27	chr4:48144000-48155400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:48144400-48155800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:48144800-48157200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr4:48146600-48156000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr4:48147600-48155600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:48147600-48155600	Weak transcription	Esophagus	oesophagus
33	chr4:48147800-48155600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:48148000-48155600	Weak transcription	Primary B cells from cord blood	blood
35	chr4:48150000-48164000	Weak transcription	Hela-S3	cervix
36	chr4:48151400-48155800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:48151800-48155800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:48152400-48154800	Strong transcription	GM12878-XiMat	blood
39	chr4:48152400-48157200	Weak transcription	Fetal Heart	heart
40	chr4:48152600-48154600	Weak transcription	K562	blood
41	chr4:48152600-48155600	Weak transcription	Left Ventricle	heart
42	chr4:48152600-48155800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:48152600-48156800	Weak transcription	Liver	Liver
44	chr4:48152600-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:48152600-48157200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:48152600-48163200	Weak transcription	HSMMtube	muscle
47	chr4:48152600-48164000	Weak transcription	HSMM	muscle
48	chr4:48153000-48153800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr4:48153000-48160400	Strong transcription	Primary monocytes fromperipheralblood	blood

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