Variant report

Variant	rs563177406
Chromosome Location	chr4:74978466-74978467
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	MYC	chr4:74978325-74978646	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr4:74978455-74978794	MCF10A-Er-Src	breast:	n/a	chr4:74978612-74978622 chr4:74978613-74978621 chr4:74978612-74978622 chr4:74978612-74978622 chr4:74978612-74978622
3	FOS	chr4:74978442-74978793	MCF10A-Er-Src	breast:	n/a	chr4:74978612-74978622 chr4:74978613-74978621 chr4:74978612-74978622 chr4:74978612-74978622 chr4:74978612-74978622
4	FOS	chr4:74978443-74978751	MCF10A-Er-Src	breast:	n/a	chr4:74978612-74978622 chr4:74978613-74978621 chr4:74978612-74978622 chr4:74978612-74978622 chr4:74978612-74978622
5	MAX	chr4:74977768-74978605	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr4:74977564-74978709	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr4:74978107-74978652	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
MTHFD2L	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3379316	chr4:74977405-74978942	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74972000-74982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:74972800-74980200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:74973000-74978600	Enhancers	HUVEC	blood vessel
4	chr4:74973400-74980200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:74974200-74981000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:74975600-74980000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:74975600-74980800	Enhancers	NHDF-Ad	bronchial
8	chr4:74975800-74978600	Enhancers	HSMMtube	muscle
9	chr4:74975800-74980000	Enhancers	HMEC	breast
10	chr4:74975800-74980800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:74975800-74980800	Enhancers	Osteobl	bone
12	chr4:74975800-74981800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:74975800-74982600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:74976000-74980200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:74976000-74982200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:74976000-74982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:74976000-74984400	Enhancers	Hela-S3	cervix
18	chr4:74976200-74979000	Enhancers	NH-A	brain
19	chr4:74976600-74978600	Enhancers	HSMM	muscle
20	chr4:74976600-74978800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:74976600-74979200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:74976600-74979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:74976600-74980800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:74977000-74980800	Enhancers	Placenta	Placenta
25	chr4:74977200-74981000	Weak transcription	Liver	Liver
26	chr4:74977200-74982200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:74977200-74983000	Weak transcription	Fetal Intestine Large	intestine
28	chr4:74977400-74978600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:74977400-74980600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:74977400-74982400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:74977600-74978600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:74977800-74978600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:74977800-74979000	Enhancers	NHLF	lung
34	chr4:74978000-74978600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr4:74978000-74978600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:74978200-74981800	Weak transcription	Right Ventricle	heart
37	chr4:74978200-74982200	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:74978200-74982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:74978400-74978600	Enhancers	Small Intestine	intestine
40	chr4:74978400-74979600	Weak transcription	Esophagus	oesophagus
41	chr4:74978400-74979800	Weak transcription	A549	lung
42	chr4:74978400-74979800	Enhancers	NHEK	skin
43	chr4:74978400-74980800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:74978400-74981800	Weak transcription	Brain Anterior Caudate	brain
45	chr4:74978400-74981800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:74978400-74982200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:74978400-74982200	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:74978400-74982200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:74978400-74982200	Weak transcription	Stomach Mucosa	stomach
50	chr4:74978400-74982400	Weak transcription	Adipose Nuclei	Adipose

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