Variant report

Variant	rs184739562
Chromosome Location	chr19:56102993-56102994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56101839..56104195-chr19:56150974..56153633,2	K562	blood:
2	chr19:56097065..56098659-chr19:56102630..56104410,2	MCF-7	breast:
3	chr19:56098521..56100588-chr19:56100809..56103773,2	MCF-7	breast:
4	chr19:56098773..56102057-chr19:56102785..56106000,5	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FIZ1	hsa-miR-186-5p	chr19:56102976-56102997

Variant related genes	Relation type
ENSG00000173581	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000171425	Chromatin interaction
FIZ1	miRNA target site

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	esv3436946	chr19:56102240-56106638	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56097800-56106600	Weak transcription	Aorta	Aorta
2	chr19:56098400-56103400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:56098800-56103600	Weak transcription	Esophagus	oesophagus
4	chr19:56098800-56104800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:56098800-56106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:56098800-56106200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:56098800-56106200	Weak transcription	Small Intestine	intestine
8	chr19:56098800-56106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:56098800-56106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:56098800-56106600	Weak transcription	HSMMtube	muscle
11	chr19:56098800-56109800	Weak transcription	Fetal Heart	heart
12	chr19:56099000-56103000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:56099000-56103000	Weak transcription	Brain Anterior Caudate	brain
14	chr19:56099000-56103000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr19:56099000-56103000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:56099000-56103000	Weak transcription	Fetal Lung	lung
17	chr19:56099000-56103200	Weak transcription	Brain Angular Gyrus	brain
18	chr19:56099000-56103400	Weak transcription	Left Ventricle	heart
19	chr19:56099000-56103600	Weak transcription	Colonic Mucosa	Colon
20	chr19:56099000-56103600	Weak transcription	Gastric	stomach
21	chr19:56099000-56103600	Weak transcription	Lung	lung
22	chr19:56099000-56103600	Weak transcription	NHLF	lung
23	chr19:56099000-56103800	Weak transcription	Right Ventricle	heart
24	chr19:56099000-56105800	Weak transcription	HSMM	muscle
25	chr19:56099000-56106200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:56099000-56106200	Weak transcription	Psoas Muscle	Psoas
27	chr19:56099000-56106200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:56099000-56106800	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:56099000-56106800	Weak transcription	NHDF-Ad	bronchial
30	chr19:56099000-56107000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:56099200-56103000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:56099200-56103000	Weak transcription	Liver	Liver
33	chr19:56099200-56103000	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:56099200-56103000	Weak transcription	Brain Substantia Nigra	brain
35	chr19:56099200-56103000	Weak transcription	A549	lung
36	chr19:56099200-56103400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:56099200-56103400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr19:56099200-56103600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:56099200-56103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:56099200-56103600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:56099200-56104800	Weak transcription	NHEK	skin
42	chr19:56099200-56105000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:56099200-56105000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:56099200-56105000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr19:56099200-56105000	Weak transcription	NH-A	brain
46	chr19:56099200-56106200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:56099200-56106200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:56099200-56106200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:56099200-56106200	Weak transcription	GM12878-XiMat	blood
50	chr19:56099200-56106200	Weak transcription	Hela-S3	cervix

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