Variant report

Variant	rs368243779
Chromosome Location	chr19:52643946-52643947
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	MXI1	chr19:52641948-52643950	HepG2	liver:	n/a	chr19:52642119-52642128 chr19:52642121-52642130
2	MXI1	chr19:52641433-52644116	IMR90	lung:	n/a	chr19:52642119-52642128 chr19:52642121-52642130
3	FOXA1	chr19:52643135-52643963	HepG2	liver:	n/a	n/a
4	MAX	chr19:52641744-52643999	HepG2	liver:	n/a	chr19:52642119-52642130 chr19:52642119-52642130 chr19:52642120-52642129 chr19:52642115-52642134 chr19:52642120-52642130 chr19:52642119-52642130 chr19:52642120-52642129 chr19:52642120-52642129 chr19:52642120-52642130
5	ELF1	chr19:52643485-52644005	HepG2	liver:	n/a	chr19:52643721-52643734
6	MXI1	chr19:52641181-52643947	SK-N-SH	brain:	n/a	chr19:52642119-52642128 chr19:52642121-52642130

No.	Distal block	Cell Line	Cell type
1	chr19:52597551..52599096-chr19:52643130..52644965,2	K562	blood:
2	chr19:52636537..52639802-chr19:52640245..52644732,7	K562	blood:
3	chr19:52641479..52644491-chr19:52690575..52695402,7	MCF-7	breast:
4	chr19:52641278..52644856-chr19:52672246..52674908,4	MCF-7	breast:
5	chr19:52551561..52553801-chr19:52643165..52644706,2	K562	blood:
6	chr19:52530143..52532908-chr19:52641672..52644028,3	K562	blood:
7	chr19:52641710..52644473-chr19:52838292..52841252,2	MCF-7	breast:
8	chr19:52633223..52639825-chr19:52641959..52644424,7	MCF-7	breast:
9	chr19:52641405..52644253-chr19:52691691..52696539,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268458	TF binding region
ZNF616	TF binding region
RPL37P23	TF binding region
ENSG00000167554	Chromatin interaction
ENSG00000256087	Chromatin interaction
ENSG00000196267	Chromatin interaction
ENSG00000142556	Chromatin interaction
ENSG00000105568	Chromatin interaction
ENSG00000238630	Chromatin interaction
ENSG00000267927	Chromatin interaction
ENSG00000197608	Chromatin interaction
ENSG00000267827	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv960860	chr19:52643619-52646538	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52641200-52644000	Active TSS	Muscle Satellite Cultured Cells	--
2	chr19:52641400-52644000	Active TSS	HSMMtube	muscle
3	chr19:52641600-52644000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:52641600-52644000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:52641600-52644000	ZNF genes & repeats	A549	lung
6	chr19:52641600-52644200	Active TSS	Psoas Muscle	Psoas
7	chr19:52641800-52644200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr19:52642000-52644000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:52642200-52644000	Active TSS	Brain Cingulate Gyrus	brain
10	chr19:52642200-52644200	Active TSS	Stomach Smooth Muscle	stomach
11	chr19:52642400-52644000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:52642600-52644000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:52643000-52644000	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr19:52643200-52644800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:52643200-52645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:52643400-52644000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr19:52643400-52644000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr19:52643400-52644000	Flanking Active TSS	Dnd41	blood
19	chr19:52643400-52644000	ZNF genes & repeats	GM12878-XiMat	blood
20	chr19:52643400-52644400	Enhancers	Lung	lung
21	chr19:52643400-52645200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr19:52643600-52644000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:52643600-52644000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:52643600-52644000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:52643600-52644000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:52643600-52644000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr19:52643600-52644000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:52643600-52644000	Enhancers	Primary B cells from peripheral blood	blood
29	chr19:52643600-52644000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr19:52643600-52644000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr19:52643600-52644000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:52643600-52644000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr19:52643600-52644000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:52643600-52644000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:52643600-52644000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:52643600-52644000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:52643600-52644000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr19:52643600-52644000	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr19:52643600-52644000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr19:52643600-52644000	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr19:52643600-52644000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr19:52643600-52644000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr19:52643600-52644000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr19:52643600-52644000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr19:52643600-52644000	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr19:52643600-52644000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:52643600-52644000	Flanking Active TSS	HepG2	liver
48	chr19:52643600-52644000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr19:52643600-52644000	Flanking Active TSS	Osteobl	bone
50	chr19:52643600-52644400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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