Variant report

Variant	rs538504559
Chromosome Location	chr4:110356540-110356541
allele	C/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	chr4:110353884-110356930	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr4:110355390-110357417	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:109542488..109544674-chr4:110355892..110357950,2	K562	blood:
2	chr4:110351870..110353542-chr4:110355047..110357946,2	MCF-7	breast:
3	chr14:105261712..105263242-chr4:110355266..110356786,2	MCF-7	breast:

Variant related genes	Relation type
SEC24B-AS1	TF binding region
ENSG00000109475	Chromatin interaction
ENSG00000142208	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3325631	chr4:110354028-110356876	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr4:110353400-110356600	Active TSS	K562	blood
2	chr4:110353600-110357000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:110353800-110356600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr4:110353800-110356800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:110353800-110357000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:110354000-110356600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:110354000-110356800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:110354000-110356800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:110354000-110356800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:110354000-110356800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:110354000-110356800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:110354000-110356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:110354000-110356800	Active TSS	Colonic Mucosa	Colon
14	chr4:110354000-110356800	Active TSS	Right Atrium	heart
15	chr4:110354000-110356800	Active TSS	A549	lung
16	chr4:110354000-110356800	Active TSS	NHDF-Ad	bronchial
17	chr4:110354000-110357000	Active TSS	HMEC	breast
18	chr4:110354200-110356600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr4:110354200-110356600	Active TSS	Fetal Kidney	kidney
20	chr4:110354200-110356600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:110354200-110356800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:110354200-110356800	Active TSS	Fetal Thymus	thymus
23	chr4:110354200-110356800	Active TSS	HSMMtube	muscle
24	chr4:110354200-110357000	Active TSS	Aorta	Aorta
25	chr4:110354200-110357000	Active TSS	Psoas Muscle	Psoas
26	chr4:110354400-110356800	Active TSS	Liver	Liver
27	chr4:110354600-110356600	Active TSS	NHEK	skin
28	chr4:110354600-110356800	Active TSS	GM12878-XiMat	blood
29	chr4:110355400-110356600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:110355600-110356600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr4:110355600-110356600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:110355600-110357200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr4:110355600-110357200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr4:110355600-110357400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr4:110355600-110357400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:110355600-110357400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr4:110355600-110357800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:110355800-110356600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:110355800-110356600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr4:110355800-110357000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:110355800-110357200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr4:110355800-110357200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:110355800-110357400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:110355800-110357400	Flanking Active TSS	HUVEC	blood vessel
45	chr4:110356000-110356600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr4:110356000-110356600	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr4:110356000-110356800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:110356000-110356800	Flanking Active TSS	Fetal Heart	heart
49	chr4:110356000-110356800	Weak transcription	Spleen	Spleen
50	chr4:110356000-110357000	Weak transcription	Gastric	stomach

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