Variant report

Variant	rs74399044
Chromosome Location	chr4:124621532-124621533
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv980514	chr4:124620149-124622952	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124618400-124632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124620400-124621600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:124620400-124623200	Enhancers	Fetal Lung	lung
4	chr4:124620800-124621600	Enhancers	Colon Smooth Muscle	Colon
5	chr4:124620800-124621600	Enhancers	HSMMtube	muscle
6	chr4:124620800-124621800	Enhancers	NH-A	brain
7	chr4:124620800-124622000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:124620800-124622000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:124620800-124622800	Enhancers	HSMM	muscle
10	chr4:124620800-124623200	Enhancers	HUVEC	blood vessel
11	chr4:124621000-124621600	Enhancers	Stomach Smooth Muscle	stomach
12	chr4:124621000-124621800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:124621000-124621800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr4:124621000-124621800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr4:124621000-124621800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:124621000-124622000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:124621000-124622000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:124621000-124622000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:124621000-124622000	Enhancers	Fetal Intestine Large	intestine
20	chr4:124621000-124622000	Enhancers	Fetal Stomach	stomach
21	chr4:124621000-124622000	Enhancers	Psoas Muscle	Psoas
22	chr4:124621000-124622000	Enhancers	HMEC	breast
23	chr4:124621000-124622200	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:124621000-124622600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:124621000-124623200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:124621200-124621600	Active TSS	Brain Angular Gyrus	brain
27	chr4:124621200-124621600	Active TSS	Brain Cingulate Gyrus	brain
28	chr4:124621200-124621600	Enhancers	Right Atrium	heart
29	chr4:124621200-124621600	Enhancers	NHEK	skin
30	chr4:124621200-124621800	Enhancers	Fetal Brain Male	brain
31	chr4:124621200-124622000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:124621200-124622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:124621200-124622000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:124621200-124622000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:124621200-124622000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr4:124621200-124622000	Enhancers	Ovary	ovary
37	chr4:124621200-124622400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:124621400-124621600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:124621400-124621600	Enhancers	Brain Germinal Matrix	brain
40	chr4:124621400-124621600	Active TSS	Brain Substantia Nigra	brain
41	chr4:124621400-124621600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:124621400-124621600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr4:124621400-124621600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr4:124621400-124621800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr4:124621400-124621800	Flanking Active TSS	NHLF	lung
46	chr4:124621400-124622000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:124621400-124622000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:124621400-124622000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:124621400-124622000	Active TSS	Aorta	Aorta
50	chr4:124621400-124622000	Flanking Active TSS	Fetal Muscle Leg	muscle

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