Variant report

Variant	rs554462044
Chromosome Location	chr19:41192313-41192314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr19:41192303-41192721	GM12878	blood:	n/a	n/a
2	BCL3	chr19:41192246-41192782	GM12878	blood:	n/a	chr19:41192743-41192751
3	NFATC1	chr19:41192245-41192773	GM12878	blood:	n/a	n/a
4	BCL3	chr19:41192279-41192784	GM12878	blood:	n/a	chr19:41192743-41192751

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
2	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
3	chr19:41192210..41194375-chr19:41305816..41308792,2	MCF-7	breast:
4	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:
5	chr19:41185927..41189025-chr19:41189587..41192782,3	K562	blood:
6	chr19:41191573..41194549-chr19:41222613..41224121,2	K562	blood:
7	chr19:41191702..41194594-chr19:41196563..41198200,2	MCF-7	breast:
8	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:

No data

Variant related genes	Relation type
NUMBL	TF binding region
ENSG00000077312	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000105245	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1067017	chr19:41185992-41231251	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
8	esv3432319	chr19:41190112-41196510	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv3391681	chr19:41192212-41196610	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41169800-41195400	Weak transcription	Psoas Muscle	Psoas
2	chr19:41172000-41193000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:41172600-41193400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:41172600-41193600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:41172800-41192800	Strong transcription	Adipose Nuclei	Adipose
6	chr19:41172800-41193200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:41172800-41193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:41173000-41192800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:41173000-41192800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:41173000-41192800	Strong transcription	Ovary	ovary
11	chr19:41173000-41193200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:41173000-41193200	Strong transcription	Osteobl	bone
13	chr19:41173200-41192600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr19:41173200-41192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:41173200-41193200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:41174200-41193200	Strong transcription	Colon Smooth Muscle	Colon
17	chr19:41175800-41192600	Strong transcription	Fetal Muscle Leg	muscle
18	chr19:41175800-41192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
20	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:41176000-41192800	Weak transcription	GM12878-XiMat	blood
22	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:41176200-41193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:41176200-41193200	Strong transcription	Fetal Intestine Small	intestine
25	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
26	chr19:41176600-41193200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:41176800-41193000	Strong transcription	Fetal Stomach	stomach
28	chr19:41176800-41193200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:41176800-41193200	Strong transcription	Brain Germinal Matrix	brain
30	chr19:41178800-41193200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:41179200-41194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr19:41179600-41193000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:41180400-41192600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:41180600-41192600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:41180800-41193200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:41180800-41193600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:41181000-41192600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr19:41181800-41192800	Strong transcription	Brain Hippocampus Middle	brain
42	chr19:41182200-41193200	Strong transcription	A549	lung
43	chr19:41184200-41193800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:41184400-41193000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:41184600-41194800	Weak transcription	Fetal Thymus	thymus
46	chr19:41185400-41192800	Strong transcription	Brain Cingulate Gyrus	brain
47	chr19:41185800-41193200	Strong transcription	Aorta	Aorta
48	chr19:41186400-41193000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr19:41186400-41193200	Strong transcription	NHLF	lung
50	chr19:41186600-41193000	Strong transcription	Spleen	Spleen

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