Variant report

Variant	rs530629869
Chromosome Location	chr19:37748024-37748025
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
6	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	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
8	nsv960834	chr19:37742831-37749967	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	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
10	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
11	esv1832219	chr19:37747108-37793960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37741600-37749200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr19:37743600-37749600	Weak transcription	Psoas Muscle	Psoas
3	chr19:37743600-37751200	Weak transcription	Left Ventricle	heart
4	chr19:37743600-37751400	Weak transcription	NHDF-Ad	bronchial
5	chr19:37743600-37752800	Weak transcription	Fetal Heart	heart
6	chr19:37743800-37749800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:37743800-37751400	Weak transcription	Fetal Brain Male	brain
8	chr19:37743800-37752200	Weak transcription	Fetal Kidney	kidney
9	chr19:37743800-37758800	Weak transcription	Brain Anterior Caudate	brain
10	chr19:37745200-37748200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr19:37745600-37758800	Weak transcription	Ovary	ovary
12	chr19:37746400-37748400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:37746400-37750400	Strong transcription	Brain Germinal Matrix	brain
14	chr19:37746800-37748200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37746800-37748400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:37746800-37748400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:37746800-37748400	Strong transcription	Brain Cingulate Gyrus	brain
18	chr19:37746800-37748400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:37746800-37748400	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:37746800-37748400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr19:37746800-37752000	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:37746800-37752000	Strong transcription	Osteobl	bone
23	chr19:37746800-37752400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:37747000-37748400	Strong transcription	Brain Substantia Nigra	brain
25	chr19:37747000-37748600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:37747000-37752200	Strong transcription	Fetal Brain Female	brain
27	chr19:37747200-37748200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:37747200-37748400	ZNF genes & repeats	Aorta	Aorta
29	chr19:37747200-37748400	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr19:37747200-37748800	Strong transcription	Fetal Stomach	stomach
31	chr19:37747200-37750400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:37747200-37751600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr19:37747400-37748400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:37747400-37748400	ZNF genes & repeats	HSMMtube	muscle
35	chr19:37747400-37748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:37747400-37749000	Strong transcription	Brain Hippocampus Middle	brain
37	chr19:37747400-37752000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:37747600-37748600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:37747600-37748600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:37747800-37754800	Weak transcription	Brain Angular Gyrus	brain
41	chr19:37748000-37748400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:37748000-37748400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:37748000-37748400	ZNF genes & repeats	Gastric	stomach
44	chr19:37748000-37748600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:37748000-37749000	Strong transcription	Fetal Lung	lung

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