Variant report

Variant	rs550482048
Chromosome Location	chr3:119345592-119345593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119344313..119346275-chr3:119356031..119358042,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv3963	chr3:119301064-119345904	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv591363	chr3:119316828-119345950	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1795621	chr3:119344693-119353995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119322200-119349200	Weak transcription	Gastric	stomach
2	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:119341400-119364600	Weak transcription	Liver	Liver
4	chr3:119342400-119346400	Enhancers	GM12878-XiMat	blood
5	chr3:119342600-119346600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:119343200-119349200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:119343800-119349200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:119343800-119351400	Enhancers	Psoas Muscle	Psoas
9	chr3:119344000-119345800	Enhancers	Right Atrium	heart
10	chr3:119344000-119347600	Enhancers	Lung	lung
11	chr3:119344200-119345600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:119344200-119349600	Enhancers	Spleen	Spleen
13	chr3:119344400-119346000	Enhancers	Placenta	Placenta
14	chr3:119344400-119348400	Enhancers	Left Ventricle	heart
15	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
16	chr3:119344600-119346600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:119344600-119346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:119344800-119345600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr3:119344800-119346400	Weak transcription	Ovary	ovary
21	chr3:119344800-119350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:119345000-119348200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:119345000-119349800	Enhancers	Right Ventricle	heart
24	chr3:119345000-119350000	Enhancers	Adipose Nuclei	Adipose
25	chr3:119345200-119345600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:119345200-119345800	Enhancers	Brain Hippocampus Middle	brain
27	chr3:119345200-119347800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr3:119345200-119348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:119345200-119349400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:119345200-119350800	Weak transcription	Fetal Heart	heart
31	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:119345400-119347800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:119345400-119347800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:119345400-119348000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:119345400-119348400	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:119345400-119348400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:119345400-119349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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