Variant report

Variant	rs542521118
Chromosome Location	chr3:120217946-120217947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv965202	chr3:120217849-120219527	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120214600-120218400	Enhancers	Rectal Smooth Muscle	rectum
2	chr3:120214600-120218400	Enhancers	HUVEC	blood vessel
3	chr3:120214800-120218400	Enhancers	Hela-S3	cervix
4	chr3:120214800-120218600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:120214800-120218800	Enhancers	NHLF	lung
6	chr3:120215200-120218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:120215200-120218200	Enhancers	HMEC	breast
8	chr3:120215200-120218400	Enhancers	Fetal Kidney	kidney
9	chr3:120215400-120218200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:120215400-120218400	Enhancers	HSMM	muscle
11	chr3:120215600-120219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:120216000-120218800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:120216200-120218600	Enhancers	NHDF-Ad	bronchial
14	chr3:120216200-120218800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:120216400-120218200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:120216400-120218400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:120216400-120218600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:120216400-120219800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:120216400-120219800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:120216600-120218400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:120216800-120218000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:120216800-120218000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:120216800-120218000	Weak transcription	Fetal Heart	heart
24	chr3:120216800-120218000	Enhancers	HSMMtube	muscle
25	chr3:120216800-120218400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:120216800-120219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:120217000-120218600	Enhancers	NH-A	brain
28	chr3:120217000-120219000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:120217000-120219000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:120217000-120219000	Enhancers	Osteobl	bone
31	chr3:120217000-120219400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:120217000-120225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:120217000-120225200	Weak transcription	Aorta	Aorta
34	chr3:120217200-120218400	Enhancers	Adipose Nuclei	Adipose
35	chr3:120217200-120218800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:120217400-120218000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:120217400-120218000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr3:120217400-120218600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:120217600-120218000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:120217600-120218000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:120217600-120218000	Enhancers	A549	lung
42	chr3:120217600-120218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:120217600-120218400	Enhancers	Fetal Lung	lung
44	chr3:120217600-120218600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:120217800-120218000	Enhancers	Fetal Muscle Leg	muscle
46	chr3:120217800-120218000	Enhancers	Left Ventricle	heart
47	chr3:120217800-120218000	Enhancers	Right Ventricle	heart
48	chr3:120217800-120218400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:120217800-120218600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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