Variant report

Variant	rs77232884
Chromosome Location	chr19:42789521-42789522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
2	chr19:42788053..42790658-chr19:42828603..42831088,2	MCF-7	breast:
3	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
4	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
5	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:
6	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
7	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:

Variant related genes	Relation type
ENSG00000079462	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
8	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
9	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
10	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
11	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
13	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
14	esv11470	chr19:42786911-42789522	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	esv3399835	chr19:42787212-42789685	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 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	chr19:42788800-42789600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42788800-42789600	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr19:42788800-42789600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr19:42788800-42789600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr19:42788800-42789600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr19:42788800-42789600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:42788800-42789600	Flanking Active TSS	Liver	Liver
8	chr19:42788800-42789600	Flanking Active TSS	Placenta	Placenta
9	chr19:42788800-42789800	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr19:42788800-42789800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:42788800-42789800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:42788800-42789800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr19:42788800-42789800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:42788800-42789800	Flanking Active TSS	NH-A	brain
15	chr19:42788800-42790000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:42788800-42790000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr19:42788800-42790000	Flanking Active TSS	A549	lung
18	chr19:42788800-42790000	Flanking Active TSS	HMEC	breast
19	chr19:42788800-42790200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:42788800-42790200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:42788800-42790200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr19:42788800-42790200	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr19:42788800-42790200	Flanking Active TSS	Dnd41	blood
24	chr19:42788800-42790200	Flanking Active TSS	NHEK	skin
25	chr19:42788800-42790400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr19:42788800-42790400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:42788800-42790400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:42788800-42790400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr19:42788800-42790400	Flanking Active TSS	Fetal Thymus	thymus
30	chr19:42788800-42790600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:42788800-42790600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr19:42788800-42790600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr19:42788800-42790600	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr19:42788800-42790600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr19:42788800-42790600	Enhancers	Stomach Mucosa	stomach
36	chr19:42788800-42790800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr19:42788800-42790800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr19:42788800-42791000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr19:42788800-42791200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:42788800-42792400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:42789000-42789600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:42789000-42789600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:42789000-42789600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:42789000-42789600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:42789000-42789600	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr19:42789000-42789600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr19:42789000-42789600	Flanking Active TSS	Fetal Brain Male	brain
48	chr19:42789000-42789600	Flanking Active TSS	Left Ventricle	heart
49	chr19:42789000-42789600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr19:42789000-42789600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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