Variant report

Variant	rs28505483
Chromosome Location	chr19:45255447-45255448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:45255298-45255616	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45254251..45256746-chr19:45347772..45349596,2	MCF-7	breast:
2	chr19:45244086..45247886-chr19:45254876..45256709,3	K562	blood:
3	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000130202	Chromatin interaction
ENSG00000252200	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10416628	1.00[TSI][hapmap]
rs28399630	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv2506	chr19:45253263-45297811	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45252800-45256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:45253000-45256000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr19:45253000-45256000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:45253000-45256200	Weak transcription	Brain Substantia Nigra	brain
5	chr19:45253000-45256600	Transcr. at gene 5' and 3'	A549	lung
6	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
8	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr19:45253000-45257200	Weak transcription	Aorta	Aorta
10	chr19:45253200-45255800	Weak transcription	K562	blood
11	chr19:45253200-45256000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr19:45253200-45256000	Weak transcription	Brain Angular Gyrus	brain
13	chr19:45253200-45256000	Strong transcription	Fetal Stomach	stomach
14	chr19:45253200-45256200	Weak transcription	Fetal Kidney	kidney
15	chr19:45253200-45256600	Transcr. at gene 5' and 3'	Liver	Liver
16	chr19:45253400-45255800	Enhancers	Primary T cells from cord blood	blood
17	chr19:45253400-45255800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr19:45253400-45255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:45253400-45255800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:45253400-45255800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:45253400-45255800	Weak transcription	Fetal Lung	lung
22	chr19:45253400-45256000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:45253400-45256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:45253400-45256000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:45253400-45256000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:45253400-45256000	Weak transcription	Small Intestine	intestine
27	chr19:45253400-45256200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:45253400-45256200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:45253400-45256200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:45253400-45256200	Weak transcription	Fetal Heart	heart
31	chr19:45253400-45256400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:45253400-45256400	Genic enhancers	Fetal Muscle Leg	muscle
33	chr19:45253400-45260200	Weak transcription	Ovary	ovary
34	chr19:45253600-45256000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:45253600-45256000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:45253600-45256800	Genic enhancers	NHEK	skin
37	chr19:45254000-45256200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr19:45254200-45255800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:45254200-45256400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
40	chr19:45254400-45255800	Enhancers	Fetal Thymus	thymus
41	chr19:45254400-45256000	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr19:45254400-45256000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:45254400-45256000	Enhancers	Thymus	Thymus
44	chr19:45254400-45257400	Genic enhancers	HepG2	liver
45	chr19:45254600-45255800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:45254600-45255800	Weak transcription	Brain Anterior Caudate	brain
47	chr19:45254600-45255800	Strong transcription	Colon Smooth Muscle	Colon
48	chr19:45254600-45255800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:45254600-45255800	Active TSS	Right Atrium	heart
50	chr19:45254600-45256000	Genic enhancers	Primary monocytes fromperipheralblood	blood

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