Variant report

Variant	rs111436616
Chromosome Location	chr19:44302434-44302435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr19:44302310-44302464	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr19:44302284-44303531	HCT-116	colon:	n/a	n/a
3	BCL3	chr19:44302339-44302760	A549	lung:	n/a	n/a
4	CBX3	chr19:44302146-44302528	K562	blood:	n/a	n/a
5	SIX5	chr19:44302199-44302524	K562	blood:	n/a	n/a
6	ZNF263	chr19:44301624-44303510	HEK293-T-REx	kidney:	n/a	chr19:44303227-44303248
7	MTA3	chr19:44302425-44302751	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:44302062-44302745	MCF-7	breast:	n/a	n/a
9	NR2F2	chr19:44302129-44302570	K562	blood:	n/a	n/a
10	NR2F2	chr19:44302233-44302515	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44301885..44304341-chr19:44304382..44306763,2	K562	blood:

Variant related genes	Relation type
ENSG00000268601	TF binding region
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases
2	esv3410496	chr19:44302164-44302435	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44289400-44302600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44301800-44302600	Enhancers	Esophagus	oesophagus
3	chr19:44302000-44302600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
4	chr19:44302200-44302600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:44302200-44302600	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr19:44302200-44302600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr19:44302200-44302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:44302200-44302600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr19:44302200-44302600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:44302200-44302600	Enhancers	Placenta	Placenta
11	chr19:44302200-44302600	Enhancers	Lung	lung
12	chr19:44302200-44302600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
13	chr19:44302200-44302800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:44302200-44303200	Flanking Active TSS	GM12878-XiMat	blood
15	chr19:44302200-44303400	Active TSS	Brain Angular Gyrus	brain
16	chr19:44302200-44303400	Active TSS	Brain Anterior Caudate	brain
17	chr19:44302400-44302600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:44302400-44302600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:44302400-44302600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:44302400-44302600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:44302400-44302600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:44302400-44302600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:44302400-44302600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:44302400-44302600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr19:44302400-44302600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:44302400-44302600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:44302400-44302600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:44302400-44302600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:44302400-44302600	Bivalent Enhancer	Liver	Liver
30	chr19:44302400-44302600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
31	chr19:44302400-44302600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr19:44302400-44302600	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr19:44302400-44302600	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr19:44302400-44302600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr19:44302400-44302600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr19:44302400-44302600	Bivalent Enhancer	Fetal Stomach	stomach
37	chr19:44302400-44302600	Enhancers	Gastric	stomach
38	chr19:44302400-44302600	Enhancers	Pancreas	Pancrea
39	chr19:44302400-44302600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
40	chr19:44302400-44302600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr19:44302400-44302600	Bivalent Enhancer	NHLF	lung
42	chr19:44302400-44302600	Bivalent Enhancer	Osteobl	bone
43	chr19:44302400-44302800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr19:44302400-44302800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:44302400-44302800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr19:44302400-44302800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr19:44302400-44302800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:44302400-44302800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr19:44302400-44302800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:44302400-44302800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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