Variant report

Variant	rs545278762
Chromosome Location	chr19:41190669-41190670
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	POLR2A	chr19:41190165-41191729	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:41190101-41190790	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:
2	chr19:41185927..41189025-chr19:41189587..41192782,3	K562	blood:

Variant related genes	Relation type
NUMBL	TF binding region
ENSG00000105245	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

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	chr19:41172400-41191000	Strong transcription	Stomach Smooth Muscle	stomach
4	chr19:41172600-41193400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:41172600-41193600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:41172800-41191000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr19:41172800-41192000	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:41172800-41192800	Strong transcription	Adipose Nuclei	Adipose
9	chr19:41172800-41193200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:41172800-41193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:41173000-41192800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:41173000-41192800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:41173000-41192800	Strong transcription	Ovary	ovary
14	chr19:41173000-41193200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:41173000-41193200	Strong transcription	Osteobl	bone
16	chr19:41173200-41192600	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr19:41173200-41192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:41173200-41193200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:41174200-41193200	Strong transcription	Colon Smooth Muscle	Colon
20	chr19:41175800-41192600	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:41175800-41192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
23	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr19:41176000-41192800	Weak transcription	GM12878-XiMat	blood
25	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:41176200-41193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:41176200-41193200	Strong transcription	Fetal Intestine Small	intestine
28	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
29	chr19:41176400-41192200	Strong transcription	Fetal Brain Female	brain
30	chr19:41176600-41193200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:41176800-41193000	Strong transcription	Fetal Stomach	stomach
32	chr19:41176800-41193200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:41176800-41193200	Strong transcription	Brain Germinal Matrix	brain
34	chr19:41178800-41193200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:41179200-41194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr19:41179600-41191200	Weak transcription	Primary B cells from cord blood	blood
38	chr19:41179600-41193000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:41180400-41191200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:41180400-41192600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:41180600-41192600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:41180800-41193200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:41180800-41193600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:41181000-41192600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:41181800-41192800	Strong transcription	Brain Hippocampus Middle	brain
48	chr19:41182200-41191200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:41182200-41193200	Strong transcription	A549	lung
50	chr19:41182800-41191200	Strong transcription	HSMMtube	muscle

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