Variant report

Variant	rs149863048
Chromosome Location	chr19:52874801-52874802
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52771473..52773658-chr19:52872286..52874915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
10	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
11	nsv2536	chr19:52869457-52902064	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52865200-52875400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:52866600-52875400	ZNF genes & repeats	Liver	Liver
3	chr19:52871200-52876400	Weak transcription	Dnd41	blood
4	chr19:52872800-52875000	ZNF genes & repeats	Fetal Thymus	thymus
5	chr19:52872800-52875200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:52872800-52875200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
7	chr19:52872800-52875400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:52873200-52875200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:52873400-52875400	ZNF genes & repeats	Placenta	Placenta
10	chr19:52873600-52875200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:52873800-52875200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
13	chr19:52873800-52877600	Weak transcription	Aorta	Aorta
14	chr19:52873800-52877600	Weak transcription	Gastric	stomach
15	chr19:52873800-52885000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr19:52874000-52875000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr19:52874000-52875000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:52874000-52875200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr19:52874000-52875200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:52874000-52875200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:52874000-52875200	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr19:52874000-52875400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:52874000-52876200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:52874000-52876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:52874000-52876400	Weak transcription	Colonic Mucosa	Colon
26	chr19:52874000-52879000	Weak transcription	Stomach Mucosa	stomach
27	chr19:52874000-52887200	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr19:52874200-52875000	Enhancers	Left Ventricle	heart
29	chr19:52874200-52875000	Weak transcription	Ovary	ovary
30	chr19:52874200-52875200	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr19:52874200-52875400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:52874200-52875400	Strong transcription	Fetal Lung	lung
33	chr19:52874200-52876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:52874200-52876200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:52874200-52876200	Weak transcription	Primary T cells from cord blood	blood
36	chr19:52874200-52876200	Weak transcription	Adipose Nuclei	Adipose
37	chr19:52874200-52876200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:52874200-52876200	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:52874200-52876200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:52874200-52876200	Weak transcription	NHLF	lung
41	chr19:52874200-52876200	Weak transcription	Osteobl	bone
42	chr19:52874200-52876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:52874200-52876400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:52874200-52876400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:52874200-52876400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:52874200-52876400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:52874200-52876400	Weak transcription	Brain Angular Gyrus	brain
48	chr19:52874200-52876400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:52874200-52876400	Weak transcription	Pancreas	Pancrea
50	chr19:52874200-52876400	Weak transcription	Psoas Muscle	Psoas

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