Variant report

Variant	rs72675488
Chromosome Location	chr14:39875747-39875748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17855896	1.00[AFR][1000 genomes]
rs1955724	0.94[EUR][1000 genomes]
rs72673401	1.00[AFR][1000 genomes]
rs72675455	1.00[AFR][1000 genomes]
rs72677634	1.00[AFR][1000 genomes]
rs72677647	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
3	chr14:39860200-39882200	Weak transcription	Fetal Heart	heart
4	chr14:39862000-39886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:39863400-39891600	Weak transcription	Small Intestine	intestine
6	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:39865000-39891200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:39865200-39878800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:39868000-39883400	Weak transcription	Thymus	Thymus
11	chr14:39869000-39876000	Weak transcription	A549	lung
12	chr14:39869000-39879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:39869000-39879800	Weak transcription	Fetal Kidney	kidney
14	chr14:39869000-39883800	Weak transcription	Left Ventricle	heart
15	chr14:39869000-39886200	Weak transcription	Aorta	Aorta
16	chr14:39869000-39886200	Weak transcription	Ovary	ovary
17	chr14:39869000-39895600	Weak transcription	Hela-S3	cervix
18	chr14:39869200-39875800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:39869200-39877600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:39869200-39884400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:39870400-39885200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:39870800-39879000	Weak transcription	Placenta	Placenta
23	chr14:39870800-39881600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:39871000-39875800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:39871000-39877200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:39871000-39879200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:39871000-39881400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:39871000-39884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:39871000-39886200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:39871200-39875800	Weak transcription	NHDF-Ad	bronchial
31	chr14:39871200-39876200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:39871200-39879000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:39871200-39880800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:39871200-39881200	Weak transcription	Primary B cells from cord blood	blood
35	chr14:39871200-39884400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:39871200-39885200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:39871400-39876400	Weak transcription	Liver	Liver
38	chr14:39871400-39879600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:39872400-39885200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:39874600-39881200	Weak transcription	Primary T cells from cord blood	blood
41	chr14:39874800-39878000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:39875200-39876600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:39875400-39876400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:39875600-39875800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:39875600-39875800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:39875600-39875800	Enhancers	Pancreatic Islets	Pancreatic Islet

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