Variant report

Variant	rs550118833
Chromosome Location	chr19:42711406-42711407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42710660..42713787-chr19:42715673..42719077,4	MCF-7	breast:
2	chr19:42579973..42582348-chr19:42709552..42711601,2	K562	blood:
3	chr19:42710960..42712716-chr19:42724125..42726109,2	K562	blood:
4	chr19:42705772..42709230-chr19:42709597..42712462,3	MCF-7	breast:
5	chr19:42709656..42714046-chr19:42719903..42723160,8	MCF-7	breast:
6	chr19:42709816..42714976-chr19:42719598..42724584,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160570	Chromatin interaction
ENSG00000167625	Chromatin interaction
ENSG00000105732	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	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
9	nsv961292	chr19:42710814-42734591	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 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	chr19:42696600-42712200	Weak transcription	Fetal Kidney	kidney
2	chr19:42699800-42714000	Weak transcription	Fetal Brain Male	brain
3	chr19:42700200-42714600	Strong transcription	Brain Germinal Matrix	brain
4	chr19:42700400-42714600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr19:42700400-42717200	Weak transcription	Psoas Muscle	Psoas
6	chr19:42700400-42719800	Strong transcription	Fetal Stomach	stomach
7	chr19:42701000-42720200	Weak transcription	Fetal Heart	heart
8	chr19:42701200-42715200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:42701200-42719800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:42701400-42714400	Strong transcription	Brain Angular Gyrus	brain
11	chr19:42701400-42715200	Strong transcription	Fetal Brain Female	brain
12	chr19:42701600-42715200	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:42702000-42714200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:42702000-42715200	Strong transcription	Fetal Intestine Large	intestine
15	chr19:42702000-42719400	Strong transcription	Fetal Intestine Small	intestine
16	chr19:42702200-42714400	Strong transcription	Aorta	Aorta
17	chr19:42702400-42714400	Strong transcription	Brain Cingulate Gyrus	brain
18	chr19:42702400-42714400	Strong transcription	HepG2	liver
19	chr19:42702400-42714600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42702400-42714600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr19:42703000-42720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:42704800-42711600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:42704800-42714400	Strong transcription	Brain Substantia Nigra	brain
24	chr19:42705000-42713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:42705800-42714200	Strong transcription	Rectal Smooth Muscle	rectum
26	chr19:42705800-42714400	Strong transcription	Left Ventricle	heart
27	chr19:42706000-42715400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:42706200-42720000	Weak transcription	Right Atrium	heart
29	chr19:42706600-42714400	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:42706800-42714400	Strong transcription	Ovary	ovary
31	chr19:42706800-42714400	Strong transcription	Dnd41	blood
32	chr19:42706800-42714600	Strong transcription	Right Ventricle	heart
33	chr19:42707000-42712000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:42707000-42714200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:42707200-42714600	Strong transcription	Adipose Nuclei	Adipose
36	chr19:42707200-42715600	Strong transcription	Fetal Muscle Leg	muscle
37	chr19:42707200-42715800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:42707400-42712000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:42707400-42713000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:42707400-42717400	Strong transcription	Thymus	Thymus
41	chr19:42707800-42713800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:42707800-42715200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:42708000-42717200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:42708000-42719400	Strong transcription	Liver	Liver
45	chr19:42708200-42711600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:42708200-42711600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:42708200-42711600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:42708200-42713000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:42708200-42715600	Strong transcription	Primary B cells from cord blood	blood
50	chr19:42708200-42716600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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