Variant report

Variant	rs368040782
Chromosome Location	chr19:53038272-53038273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53029459..53032258-chr19:53036873..53039549,6	MCF-7	breast:
2	chr19:53031656..53034156-chr19:53037494..53039065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198482	Chromatin interaction

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	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription 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	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1066717	chr19:52993620-53041995	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1064342	chr19:52996710-53041119	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1055859	chr19:53001299-53041119	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1060656	chr19:53001299-53041995	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53031800-53038600	Weak transcription	Aorta	Aorta
2	chr19:53031800-53038800	Weak transcription	Ovary	ovary
3	chr19:53032000-53038400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:53032000-53038400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:53032000-53038400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr19:53032000-53038600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:53032000-53038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:53032000-53038600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:53032000-53038600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:53032000-53038600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:53032000-53038600	Weak transcription	HMEC	breast
12	chr19:53032000-53038600	Weak transcription	HSMM	muscle
13	chr19:53032000-53038600	Weak transcription	HUVEC	blood vessel
14	chr19:53032000-53038600	Weak transcription	NH-A	brain
15	chr19:53032000-53038600	Weak transcription	NHDF-Ad	bronchial
16	chr19:53032000-53038600	Weak transcription	Osteobl	bone
17	chr19:53032000-53038800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:53032000-53038800	Weak transcription	Small Intestine	intestine
19	chr19:53032000-53039000	Weak transcription	HSMMtube	muscle
20	chr19:53032200-53038600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:53032200-53038600	Weak transcription	NHLF	lung
22	chr19:53032200-53039400	Weak transcription	Stomach Mucosa	stomach
23	chr19:53032200-53057000	Weak transcription	Hela-S3	cervix
24	chr19:53032400-53038600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:53032400-53038600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:53032400-53038600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:53032400-53038800	Weak transcription	Fetal Kidney	kidney
28	chr19:53032400-53038800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:53032600-53038600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:53032600-53038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:53032600-53038600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:53032600-53038600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr19:53032600-53038600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:53032600-53038600	Weak transcription	Brain Anterior Caudate	brain
35	chr19:53032600-53038600	Weak transcription	Fetal Thymus	thymus
36	chr19:53032600-53038600	Weak transcription	Pancreas	Pancrea
37	chr19:53032600-53038600	Weak transcription	NHEK	skin
38	chr19:53032600-53038800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:53032600-53039200	Weak transcription	Spleen	Spleen
40	chr19:53032600-53049800	Weak transcription	HepG2	liver
41	chr19:53033800-53040200	ZNF genes & repeats	Liver	Liver
42	chr19:53034200-53038400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:53036200-53038600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:53036400-53038400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr19:53036400-53038600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr19:53036400-53038600	Enhancers	Placenta	Placenta
47	chr19:53036400-53038600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr19:53036400-53040000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:53036400-53040400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr19:53036600-53038600	Enhancers	Skeletal Muscle Female	skeletal muscle

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