Variant report

Variant	rs73253004
Chromosome Location	chr5:114859499-114859500
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114857751..114862120-chr5:114862571..114865082,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs73251175	0.85[AFR][1000 genomes]
rs73251180	1.00[AFR][1000 genomes]
rs73251187	1.00[AFR][1000 genomes]
rs73251189	1.00[AFR][1000 genomes]
rs73251191	1.00[AFR][1000 genomes]
rs73251194	0.94[AFR][1000 genomes]
rs73251195	1.00[AFR][1000 genomes]
rs73251200	1.00[AFR][1000 genomes]
rs73251202	0.90[AFR][1000 genomes]
rs73253008	1.00[AFR][1000 genomes]
rs73253009	1.00[AFR][1000 genomes]
rs73253016	1.00[AFR][1000 genomes]
rs73253018	1.00[AFR][1000 genomes]
rs73254564	0.83[AFR][1000 genomes]
rs73254581	0.83[AFR][1000 genomes]
rs7730778	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:114844200-114859800	Weak transcription	Osteobl	bone
3	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
4	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:114846600-114860000	Weak transcription	Ovary	ovary
6	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
8	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
9	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
10	chr5:114853400-114859600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:114853600-114860200	Weak transcription	Fetal Brain Male	brain
12	chr5:114853800-114863000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:114854200-114859800	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr5:114854600-114870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:114855400-114860200	Weak transcription	NHEK	skin
16	chr5:114855400-114863600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:114856000-114860000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:114856200-114859800	Weak transcription	Fetal Brain Female	brain
19	chr5:114856600-114860000	Weak transcription	Right Ventricle	heart
20	chr5:114856800-114859600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:114856800-114859800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:114856800-114864200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:114856800-114871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:114857000-114860200	Weak transcription	Colonic Mucosa	Colon
25	chr5:114857000-114863000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:114857200-114860000	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:114857200-114860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:114857200-114860200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:114857200-114860200	Weak transcription	Pancreas	Pancrea
30	chr5:114857200-114863000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:114857400-114860200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:114857600-114866400	Strong transcription	Dnd41	blood
33	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:114858000-114859800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:114858000-114861600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:114858000-114863000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:114858200-114860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:114858200-114861200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:114858200-114861400	Strong transcription	HSMM	muscle
40	chr5:114858200-114861400	Strong transcription	K562	blood
41	chr5:114858200-114862600	Strong transcription	HUVEC	blood vessel
42	chr5:114858200-114863000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:114858200-114863200	Genic enhancers	NHDF-Ad	bronchial
44	chr5:114858200-114863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:114858400-114859600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:114858400-114859600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:114858400-114859600	Enhancers	Stomach Mucosa	stomach
48	chr5:114858400-114860000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:114858400-114860000	Weak transcription	Lung	lung
50	chr5:114858400-114860200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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