Variant report

Variant	rs557571944
Chromosome Location	chr3:120132872-120132873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv3333135	chr3:120131862-120135010	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120113200-120133000	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:120114400-120143200	Weak transcription	Small Intestine	intestine
3	chr3:120115800-120151000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:120118800-120135600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:120122200-120136000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:120122400-120135000	Weak transcription	Psoas Muscle	Psoas
7	chr3:120122400-120135800	Weak transcription	A549	lung
8	chr3:120127400-120135600	Weak transcription	Fetal Thymus	thymus
9	chr3:120128200-120135000	Weak transcription	Thymus	Thymus
10	chr3:120128200-120137600	Weak transcription	Gastric	stomach
11	chr3:120128400-120135600	Weak transcription	Brain Germinal Matrix	brain
12	chr3:120128400-120135600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:120128400-120136200	Weak transcription	Fetal Brain Female	brain
14	chr3:120128600-120133200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:120128600-120135600	Weak transcription	Esophagus	oesophagus
16	chr3:120128600-120135600	Weak transcription	Pancreas	Pancrea
17	chr3:120128600-120135600	Weak transcription	Spleen	Spleen
18	chr3:120128800-120135000	Weak transcription	Brain Angular Gyrus	brain
19	chr3:120128800-120135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:120129800-120135600	Weak transcription	HMEC	breast
21	chr3:120130600-120135800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:120130800-120133000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:120130800-120135400	Weak transcription	Brain Substantia Nigra	brain
24	chr3:120131000-120134600	Weak transcription	Right Ventricle	heart
25	chr3:120131000-120135600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:120131000-120135600	Weak transcription	Colonic Mucosa	Colon
27	chr3:120131200-120134600	Weak transcription	Lung	lung
28	chr3:120131200-120135600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:120131200-120135600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:120131200-120135800	Weak transcription	Ovary	ovary
31	chr3:120131200-120136000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:120131400-120134800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:120131400-120135400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:120131400-120135600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:120131400-120135600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:120131600-120133200	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr3:120131600-120135600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:120132000-120135200	Weak transcription	Fetal Heart	heart
39	chr3:120132400-120134000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:120132400-120134200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:120132400-120134600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:120132400-120134600	Weak transcription	Fetal Stomach	stomach
43	chr3:120132400-120134600	Weak transcription	Left Ventricle	heart
44	chr3:120132400-120134600	Weak transcription	Right Atrium	heart
45	chr3:120132400-120134800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:120132400-120135200	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:120132400-120135400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:120132400-120135400	Weak transcription	Liver	Liver
49	chr3:120132400-120135600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:120132400-120135600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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