Variant report

Variant	rs545547903
Chromosome Location	chr19:41192909-41192910
allele	A/G
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	MXI1	chr19:41192631-41197581	IMR90	lung:	n/a	chr19:41193038-41193053 chr19:41193021-41193036
2	POLR2A	chr19:41192530-41192971	K562	blood:	n/a	n/a
3	CHD1	chr19:41192595-41197591	IMR90	lung:	n/a	chr19:41196943-41196953 chr19:41196593-41196603

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	chr19:41185972..41188881-chr19:41192870..41195079,2	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:

Variant related genes	Relation type
NUMBL	TF binding region
ENSG00000077312	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000268797	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	chr19:41172800-41193200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:41172800-41193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:41173000-41193200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:41173000-41193200	Strong transcription	Osteobl	bone
9	chr19:41173200-41193200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:41174200-41193200	Strong transcription	Colon Smooth Muscle	Colon
11	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
12	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:41176200-41193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:41176200-41193200	Strong transcription	Fetal Intestine Small	intestine
16	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
17	chr19:41176600-41193200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:41176800-41193000	Strong transcription	Fetal Stomach	stomach
19	chr19:41176800-41193200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:41176800-41193200	Strong transcription	Brain Germinal Matrix	brain
21	chr19:41178800-41193200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:41179200-41194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr19:41179600-41193000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:41180800-41193200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:41180800-41193600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr19:41182200-41193200	Strong transcription	A549	lung
30	chr19:41184200-41193800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr19:41184400-41193000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr19:41184600-41194800	Weak transcription	Fetal Thymus	thymus
33	chr19:41185800-41193200	Strong transcription	Aorta	Aorta
34	chr19:41186400-41193000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr19:41186400-41193200	Strong transcription	NHLF	lung
36	chr19:41186600-41193000	Strong transcription	Spleen	Spleen
37	chr19:41186600-41193200	Strong transcription	Lung	lung
38	chr19:41186600-41193400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr19:41186600-41194200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr19:41186800-41193000	Strong transcription	NHDF-Ad	bronchial
41	chr19:41187000-41195600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:41187200-41195200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:41187200-41195800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:41187400-41193600	Weak transcription	HUVEC	blood vessel
45	chr19:41187400-41195200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:41187600-41195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:41188800-41195800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:41189200-41193200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:41189600-41193000	Weak transcription	Colonic Mucosa	Colon
50	chr19:41190400-41193200	Strong transcription	Primary T cells from cord blood	blood

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