Variant report

Variant	rs73285587
Chromosome Location	chr14:39887057-39887058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17109185	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28398804	0.87[AFR][1000 genomes]
rs56804791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140854	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146753	0.89[AFR][1000 genomes]
rs7156962	0.91[AFR][1000 genomes]
rs7158282	0.91[AFR][1000 genomes]
rs73285548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285597	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39863400-39891600	Weak transcription	Small Intestine	intestine
2	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:39865000-39891200	Weak transcription	Psoas Muscle	Psoas
4	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:39869000-39895600	Weak transcription	Hela-S3	cervix
6	chr14:39881200-39887200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:39881600-39887200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr14:39882200-39895400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:39885000-39887800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr14:39885200-39891400	Weak transcription	Gastric	stomach
11	chr14:39885800-39887200	ZNF genes & repeats	GM12878-XiMat	blood
12	chr14:39886000-39890800	Weak transcription	Fetal Brain Male	brain
13	chr14:39886000-39895600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:39886200-39887600	ZNF genes & repeats	Fetal Stomach	stomach
15	chr14:39886200-39890600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:39886200-39895600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:39886400-39887200	ZNF genes & repeats	Dnd41	blood
18	chr14:39886400-39888200	Weak transcription	Fetal Heart	heart
19	chr14:39886400-39888400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:39886400-39888600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:39886400-39888600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:39886400-39892600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:39886400-39895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:39886600-39888400	Weak transcription	Liver	Liver
25	chr14:39886600-39888800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:39886600-39889000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:39886600-39889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:39886600-39889600	Weak transcription	Left Ventricle	heart
29	chr14:39886600-39890200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:39886600-39890200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:39886600-39890200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:39886600-39890800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:39886600-39890800	Weak transcription	Brain Angular Gyrus	brain
34	chr14:39886600-39891200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:39886600-39891200	Weak transcription	Lung	lung
36	chr14:39886600-39891200	Weak transcription	Ovary	ovary
37	chr14:39886600-39891200	Weak transcription	Right Ventricle	heart
38	chr14:39886600-39891400	Weak transcription	Aorta	Aorta
39	chr14:39886600-39891800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:39886600-39894000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:39886600-39894400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:39886600-39895600	Weak transcription	Fetal Lung	lung
43	chr14:39886600-39895800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:39886600-39895800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:39886600-39898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:39886600-39900000	Weak transcription	Esophagus	oesophagus
47	chr14:39886600-39900000	Weak transcription	Pancreas	Pancrea
48	chr14:39886800-39888200	Weak transcription	Primary B cells from cord blood	blood
49	chr14:39886800-39889800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:39886800-39890200	Weak transcription	Primary T cells from cord blood	blood

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