Variant report

Variant	rs547998519
Chromosome Location	chr19:37795109-37795110
allele	G/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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3520361	chr19:37745067-37811325	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3520362	chr19:37745067-37811325	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv978811	chr19:37749967-37820517	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv821351	chr19:37756399-37796493	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3337270	chr19:37758512-37795610	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3369946	chr19:37758512-37795610	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3377915	chr19:37758512-37795610	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3416120	chr19:37758512-37795610	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3430128	chr19:37758512-37795610	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3390818	chr19:37758512-37795710	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37794400-37795400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr19:37794400-37795400	Active TSS	Right Ventricle	heart
3	chr19:37794400-37795600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:37794400-37795600	Active TSS	Brain Hippocampus Middle	brain
5	chr19:37794400-37795600	ZNF genes & repeats	Esophagus	oesophagus
6	chr19:37794400-37795600	ZNF genes & repeats	Gastric	stomach
7	chr19:37794400-37795600	Active TSS	Left Ventricle	heart
8	chr19:37794400-37795800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr19:37794400-37795800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:37794400-37795800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:37794400-37795800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:37794400-37795800	Active TSS	Brain Cingulate Gyrus	brain
13	chr19:37794400-37795800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:37794400-37795800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:37794400-37795800	Active TSS	Rectal Smooth Muscle	rectum
16	chr19:37794400-37795800	Active TSS	Stomach Smooth Muscle	stomach
17	chr19:37794400-37796000	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr19:37794400-37796400	ZNF genes & repeats	Pancreas	Pancrea
19	chr19:37794400-37796600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:37794400-37796600	ZNF genes & repeats	Liver	Liver
21	chr19:37794400-37796600	ZNF genes & repeats	Lung	lung
22	chr19:37794400-37797200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr19:37794400-37797200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr19:37794400-37797400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:37794400-37798400	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:37794600-37795200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:37794600-37795200	Active TSS	NHDF-Ad	bronchial
28	chr19:37794600-37795400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:37794600-37795400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr19:37794600-37795400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:37794600-37795400	Active TSS	Aorta	Aorta
32	chr19:37794600-37795400	Active TSS	Psoas Muscle	Psoas
33	chr19:37794600-37795400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr19:37794600-37795600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:37794600-37795600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:37794600-37795600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:37794600-37795600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:37794600-37795600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:37794600-37795600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr19:37794600-37795600	Active TSS	Brain Angular Gyrus	brain
41	chr19:37794600-37795600	Active TSS	Brain Anterior Caudate	brain
42	chr19:37794600-37795600	Active TSS	Colon Smooth Muscle	Colon
43	chr19:37794600-37795600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr19:37794600-37795600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:37794600-37795600	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr19:37794600-37795600	ZNF genes & repeats	HSMMtube	muscle
47	chr19:37794600-37795800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr19:37794600-37795800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:37794600-37795800	Active TSS	Right Atrium	heart
50	chr19:37794600-37795800	ZNF genes & repeats	HSMM	muscle

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