Variant report

Variant	rs547044512
Chromosome Location	chr19:41153030-41153031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv870022	chr19:41113071-41178982	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv2489	chr19:41145034-41182170	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
15	esv993784	chr19:41150978-41160426	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3509800	chr19:41152400-41158141	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41146800-41157000	Weak transcription	Spleen	Spleen
2	chr19:41151800-41153200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:41152400-41156600	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:41152800-41156400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:41152800-41156400	Weak transcription	Colonic Mucosa	Colon
6	chr19:41152800-41156400	Weak transcription	Ovary	ovary
7	chr19:41152800-41156800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr19:41152800-41157600	Weak transcription	Esophagus	oesophagus
9	chr19:41153000-41153200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:41153000-41153200	Enhancers	A549	lung
11	chr19:41153000-41156000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:41153000-41156000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:41153000-41156000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:41153000-41156000	Weak transcription	Fetal Muscle Leg	muscle
15	chr19:41153000-41156200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:41153000-41156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:41153000-41156200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:41153000-41156200	Weak transcription	Adipose Nuclei	Adipose
19	chr19:41153000-41156200	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:41153000-41156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:41153000-41156200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:41153000-41156200	Weak transcription	Fetal Lung	lung
23	chr19:41153000-41156200	Weak transcription	Lung	lung
24	chr19:41153000-41156200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:41153000-41156200	Weak transcription	Right Atrium	heart
26	chr19:41153000-41156200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr19:41153000-41156200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:41153000-41156200	Weak transcription	HSMMtube	muscle
29	chr19:41153000-41156200	Weak transcription	K562	blood
30	chr19:41153000-41156200	Weak transcription	NHDF-Ad	bronchial
31	chr19:41153000-41156200	Weak transcription	NHLF	lung
32	chr19:41153000-41156200	Weak transcription	Osteobl	bone
33	chr19:41153000-41156400	Weak transcription	Fetal Stomach	stomach
34	chr19:41153000-41156400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:41153000-41156400	Weak transcription	HSMM	muscle
36	chr19:41153000-41157400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:41153000-41157600	Weak transcription	Hela-S3	cervix
38	chr19:41153000-41158000	Weak transcription	Left Ventricle	heart

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