Variant report

Variant	rs12885079
Chromosome Location	chr14:39873661-39873662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1056345	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879584	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12881098	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12884137	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12886403	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17694832	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17696574	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1955704	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2148507	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415546	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34173090	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34629111	0.87[AMR][1000 genomes]
rs34651350	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34654496	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34697019	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34785385	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34829840	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34983854	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35026953	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35297616	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35690918	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36090203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56127968	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7152028	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72675474	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72677625	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

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	chr14:39853600-39874200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:39860200-39882200	Weak transcription	Fetal Heart	heart
5	chr14:39861400-39874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:39862000-39886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:39862400-39874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:39863400-39874000	Weak transcription	Fetal Lung	lung
9	chr14:39863400-39891600	Weak transcription	Small Intestine	intestine
10	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:39865000-39891200	Weak transcription	Psoas Muscle	Psoas
12	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:39865200-39878800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:39867400-39874200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:39867800-39875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:39868000-39883400	Weak transcription	Thymus	Thymus
17	chr14:39869000-39873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:39869000-39874400	Weak transcription	Pancreas	Pancrea
19	chr14:39869000-39876000	Weak transcription	A549	lung
20	chr14:39869000-39879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:39869000-39879800	Weak transcription	Fetal Kidney	kidney
22	chr14:39869000-39883800	Weak transcription	Left Ventricle	heart
23	chr14:39869000-39886200	Weak transcription	Aorta	Aorta
24	chr14:39869000-39886200	Weak transcription	Ovary	ovary
25	chr14:39869000-39895600	Weak transcription	Hela-S3	cervix
26	chr14:39869200-39873800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:39869200-39875800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:39869200-39877600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:39869200-39884400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:39869600-39875400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:39870400-39885200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:39870800-39879000	Weak transcription	Placenta	Placenta
33	chr14:39870800-39881600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:39871000-39873800	Weak transcription	Brain Germinal Matrix	brain
35	chr14:39871000-39874400	Weak transcription	GM12878-XiMat	blood
36	chr14:39871000-39875400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:39871000-39875600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:39871000-39875600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:39871000-39875800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:39871000-39877200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:39871000-39879200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:39871000-39881400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:39871000-39884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:39871000-39886200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:39871200-39874000	Weak transcription	HepG2	liver
46	chr14:39871200-39874200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr14:39871200-39875200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:39871200-39875800	Weak transcription	NHDF-Ad	bronchial
49	chr14:39871200-39876200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:39871200-39879000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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