Variant report

Variant	rs148186488
Chromosome Location	chr4:57935907-57935908
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	KAP1	chr4:57935678-57936104	U2OS	brain:	n/a	n/a
2	SETDB1	chr4:57935714-57935972	U2OS	brain:	n/a	n/a
3	KAP1	chr4:57935678-57936233	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
IGFBP7	TF binding region
UBE2CP3	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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3393902	chr4:57935600-57939401	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
5	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
7	chr4:57931200-57936000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:57931200-57936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:57931200-57937000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
11	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
12	chr4:57932400-57936000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:57932400-57936800	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
16	chr4:57932600-57936000	Enhancers	A549	lung
17	chr4:57932600-57936600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:57932600-57936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:57932600-57936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:57932600-57937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:57932600-57937200	Weak transcription	Adipose Nuclei	Adipose
22	chr4:57932600-57937200	Weak transcription	Fetal Intestine Large	intestine
23	chr4:57932600-57937600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
25	chr4:57932800-57936600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:57934200-57936200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:57934200-57936200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:57934200-57936200	Enhancers	Left Ventricle	heart
29	chr4:57934400-57936200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:57934600-57936000	Weak transcription	HMEC	breast
32	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:57935000-57936800	Weak transcription	Fetal Lung	lung
34	chr4:57935200-57936000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:57935200-57936200	Enhancers	Fetal Muscle Trunk	muscle
36	chr4:57935200-57937000	Weak transcription	NHDF-Ad	bronchial
37	chr4:57935200-57937800	Enhancers	Aorta	Aorta
38	chr4:57935400-57937200	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:57935600-57936000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:57935600-57936200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:57935600-57936200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:57935600-57936800	Weak transcription	NHLF	lung
43	chr4:57935600-57937200	Weak transcription	Ovary	ovary
44	chr4:57935600-57937200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:57935600-57937200	Weak transcription	HSMM	muscle
46	chr4:57935600-57937200	Weak transcription	HSMMtube	muscle
47	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
48	chr4:57935800-57936000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:57935800-57936400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:57935800-57936400	Weak transcription	NH-A	brain

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