Variant report

Variant	rs544889522
Chromosome Location	chr19:39938194-39938195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:110600017..110602623-chr19:39936347..39938465,2	MCF-7	breast:
2	chr19:39937361..39939355-chr19:39949611..39951111,2	K562	blood:
3	chr19:39936167..39938828-chr19:39963959..39966821,3	K562	blood:
4	chr19:39934791..39938517-chr19:40022234..40026334,4	K562	blood:
5	chr19:39930426..39932115-chr19:39937018..39938757,2	MCF-7	breast:
6	chr19:39936259..39938651-chr19:39958847..39961509,4	MCF-7	breast:
7	chr19:39924469..39929022-chr19:39934307..39938518,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196235	Chromatin interaction
ENSG00000269584	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000176401	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	chr19:39936800-39938600	Enhancers	Spleen	Spleen
2	chr19:39936800-39949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:39937000-39938200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:39937000-39938800	Weak transcription	Aorta	Aorta
5	chr19:39937000-39939000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:39937000-39949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:39937000-39971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:39937200-39938400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:39937200-39938400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr19:39937200-39938600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:39937200-39938600	Enhancers	Thymus	Thymus
12	chr19:39937200-39938800	Enhancers	Primary hematopoietic stem cells	blood
13	chr19:39937200-39938800	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr19:39937200-39938800	Weak transcription	Ovary	ovary
15	chr19:39937200-39939200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr19:39937200-39939200	Genic enhancers	Fetal Lung	lung
17	chr19:39937200-39939200	Enhancers	Stomach Mucosa	stomach
18	chr19:39937200-39939400	Genic enhancers	Fetal Stomach	stomach
19	chr19:39937200-39940600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:39937200-39941600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:39937200-39943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:39937400-39938200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:39937400-39938200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:39937400-39938200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr19:39937400-39938400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:39937400-39938400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:39937400-39938400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:39937400-39938400	Enhancers	Adipose Nuclei	Adipose
29	chr19:39937400-39938400	Weak transcription	Fetal Brain Female	brain
30	chr19:39937400-39938400	Enhancers	Fetal Thymus	thymus
31	chr19:39937400-39938600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:39937400-39938600	Enhancers	Primary B cells from peripheral blood	blood
33	chr19:39937400-39938800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:39937400-39938800	Enhancers	Primary B cells from cord blood	blood
35	chr19:39937400-39938800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr19:39937400-39938800	Genic enhancers	Osteobl	bone
37	chr19:39937400-39939200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr19:39937400-39939400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:39937400-39939400	Genic enhancers	Fetal Muscle Leg	muscle
40	chr19:39937400-39939400	Enhancers	NHDF-Ad	bronchial
41	chr19:39937400-39940000	Genic enhancers	Brain Cingulate Gyrus	brain
42	chr19:39937400-39940200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:39937400-39941200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:39937400-39942800	Weak transcription	Fetal Kidney	kidney
45	chr19:39937400-39944600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:39937400-39971000	Weak transcription	Right Atrium	heart
47	chr19:39937600-39938200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:39937600-39938200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr19:39937600-39938400	Weak transcription	Brain Anterior Caudate	brain
50	chr19:39937600-39938600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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