Variant report

Variant	rs534990090
Chromosome Location	chr19:39937326-39937327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39935867..39937651-chr19:40022035..40024212,2	MCF-7	breast:
2	chr10:110600017..110602623-chr19:39936347..39938465,2	MCF-7	breast:
3	chr19:39934545..39937545-chr19:40023023..40025430,4	MCF-7	breast:
4	chr19:39935872..39937858-chr19:40003816..40005942,2	MCF-7	breast:
5	chr19:39936325..39937843-chr19:40029229..40031562,2	MCF-7	breast:
6	chr19:39934676..39937838-chr19:39970025..39973557,7	MCF-7	breast:
7	chr19:39934091..39937562-chr19:39970121..39972977,5	K562	blood:
8	chr19:39936167..39938828-chr19:39963959..39966821,3	K562	blood:
9	chr19:39933642..39937454-chr19:40029470..40032868,6	MCF-7	breast:
10	chr19:39934791..39938517-chr19:40022234..40026334,4	K562	blood:
11	chr19:39831465..39834764-chr19:39935836..39937934,3	K562	blood:
12	chr19:39930426..39932115-chr19:39937018..39938757,2	MCF-7	breast:
13	chr19:39935972..39937694-chr19:39965602..39968199,3	K562	blood:
14	chr19:39934619..39937838-chr19:39970480..39972998,6	MCF-7	breast:
15	chr19:39936259..39938651-chr19:39958847..39961509,4	MCF-7	breast:
16	chr19:39903188..39905724-chr19:39934407..39937965,7	MCF-7	breast:
17	chr19:39924469..39929022-chr19:39934307..39938518,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186838	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000269584	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000269246	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000176396	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000090924	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv911685	chr19:39888449-39948779	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
3	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
7	nsv544003	chr19:39937078-39974282	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr19:39935000-39937400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:39935000-39937400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:39935000-39937400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:39935000-39937400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:39935000-39937600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:39935200-39937400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:39935200-39937400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:39935200-39937400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:39935200-39937400	Active TSS	Fetal Kidney	kidney
10	chr19:39935200-39937600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:39935200-39937600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:39935200-39937600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr19:39935200-39937600	Active TSS	HSMMtube	muscle
14	chr19:39935200-39937800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:39936400-39937400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:39936400-39937400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:39936400-39937600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:39936400-39937600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr19:39936400-39937600	Flanking Active TSS	Colonic Mucosa	Colon
20	chr19:39936400-39938000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr19:39936400-39938000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:39936600-39937400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr19:39936600-39937400	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr19:39936600-39937400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:39936600-39937400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr19:39936600-39937400	Flanking Active TSS	HUVEC	blood vessel
27	chr19:39936600-39937400	Flanking Active TSS	NH-A	brain
28	chr19:39936600-39937600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:39936600-39937800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr19:39936600-39937800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr19:39936600-39938000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:39936800-39937400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:39936800-39937400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr19:39936800-39937400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr19:39936800-39937400	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr19:39936800-39937400	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr19:39936800-39937400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr19:39936800-39937400	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr19:39936800-39937400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr19:39936800-39937400	Flanking Active TSS	NHEK	skin
41	chr19:39936800-39937400	Flanking Active TSS	Osteobl	bone
42	chr19:39936800-39937600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:39936800-39937600	Flanking Active TSS	Liver	Liver
44	chr19:39936800-39937600	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr19:39936800-39937600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr19:39936800-39937600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:39936800-39937800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr19:39936800-39937800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr19:39936800-39937800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr19:39936800-39937800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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