Variant report

Variant	rs116172159
Chromosome Location	chr19:45677000-45677001
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:
2	chr19:45675726..45677672-chr19:45752421..45754832,2	MCF-7	breast:
3	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
4	chr19:45674624..45677350-chr19:45825375..45827077,2	K562	blood:
5	chr19:45675317..45679355-chr19:45679533..45681845,4	K562	blood:
6	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
7	chr19:45675481..45678583-chr19:45681504..45683285,3	K562	blood:
8	chr19:45675822..45679295-chr19:45679475..45683800,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007255	Chromatin interaction
ENSG00000104879	Chromatin interaction
ENSG00000007047	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000267545	Chromatin interaction

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	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong 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 lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1798099	chr19:45664218-45681988	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	esv1791796	chr19:45673701-45681988	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	esv1794498	chr19:45673701-45691040	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	esv3508983	chr19:45674762-45677360	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3508984	chr19:45674762-45677360	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	esv1005203	chr19:45675812-45684868	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
14	esv2422482	chr19:45676705-45769805	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
3	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
7	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
9	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:45668600-45679000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr19:45668800-45680400	Weak transcription	Brain Anterior Caudate	brain
13	chr19:45668800-45680400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:45669000-45680200	Weak transcription	Fetal Brain Female	brain
15	chr19:45670200-45680200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:45670200-45680400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:45670600-45680400	Weak transcription	Brain Angular Gyrus	brain
18	chr19:45670600-45680400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:45670800-45680400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:45671600-45677600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:45672400-45677000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:45672400-45680800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:45672600-45677800	Enhancers	Primary hematopoietic stem cells	blood
24	chr19:45673600-45678000	Enhancers	Fetal Thymus	thymus
25	chr19:45673800-45680400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:45674000-45677600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr19:45674000-45677800	Enhancers	Primary B cells from cord blood	blood
28	chr19:45674000-45678000	Enhancers	GM12878-XiMat	blood
29	chr19:45674200-45677800	Enhancers	Primary B cells from peripheral blood	blood
30	chr19:45674200-45678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:45674200-45680400	Weak transcription	Ovary	ovary
32	chr19:45674600-45677800	Enhancers	Thymus	Thymus
33	chr19:45674800-45678000	Enhancers	HepG2	liver
34	chr19:45675000-45677400	Enhancers	Spleen	Spleen
35	chr19:45675000-45677800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr19:45675000-45680200	Weak transcription	Dnd41	blood
37	chr19:45675200-45677400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:45675200-45677800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr19:45675200-45677800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:45675200-45680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:45675400-45677000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:45675600-45677600	Enhancers	HSMM	muscle
43	chr19:45675800-45678800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:45675800-45678800	Weak transcription	NHEK	skin
45	chr19:45675800-45680400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:45675800-45680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:45676000-45677600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:45676000-45677600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr19:45676000-45677800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr19:45676000-45677800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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