Variant report

Variant	rs2865240
Chromosome Location	chr19:53753019-53753020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv580079	chr19:53732590-53756120	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1055236	chr19:53739483-53778339	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1059899	chr19:53744560-53768337	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1064070	chr19:53744560-53769702	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS 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	3 gene(s)	inside rSNPs	diseases
14	esv2564765	chr19:53753017-53753024	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
15	esv2290075	chr19:53753017-53753025	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:53738800-53756600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr19:53739400-53755200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:53739600-53756200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:53740000-53756400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:53740000-53756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:53740000-53756800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:53740200-53756800	ZNF genes & repeats	Fetal Lung	lung
12	chr19:53740200-53757600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:53740400-53756800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr19:53743000-53756600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr19:53745200-53756600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:53747400-53753600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:53747400-53754600	Weak transcription	HSMMtube	muscle
18	chr19:53747600-53753400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:53747600-53753400	Weak transcription	Pancreas	Pancrea
20	chr19:53747600-53753600	Weak transcription	Thymus	Thymus
21	chr19:53747600-53754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:53747800-53753400	Weak transcription	Gastric	stomach
23	chr19:53747800-53753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:53747800-53753600	Weak transcription	Right Ventricle	heart
25	chr19:53747800-53755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:53747800-53757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:53748400-53757400	Weak transcription	Colonic Mucosa	Colon
28	chr19:53749600-53755800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr19:53749600-53756200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr19:53749800-53756600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:53750000-53757200	Weak transcription	HUVEC	blood vessel
32	chr19:53750200-53756600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:53750400-53754600	Weak transcription	Fetal Heart	heart
34	chr19:53750400-53755800	Strong transcription	HSMM	muscle
35	chr19:53750400-53759200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:53750600-53753400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:53750600-53753400	Weak transcription	Fetal Brain Male	brain
38	chr19:53750600-53753400	Weak transcription	Lung	lung
39	chr19:53750600-53756200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr19:53750600-53757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:53750800-53753400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:53750800-53753600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:53751000-53753400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:53751200-53757400	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:53751400-53753400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:53751600-53756000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:53751600-53756800	ZNF genes & repeats	Ovary	ovary
48	chr19:53751800-53756800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:53752000-53753400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:53752000-53757000	ZNF genes & repeats	Fetal Intestine Large	intestine

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