Variant report

Variant	rs72693028
Chromosome Location	chr14:81349897-81349898
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12050151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896436	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17111153	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17111237	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17111246	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17111256	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2059719	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2162547	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72693029	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693043	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72693050	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8007834	0.81[ASN][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81329200-81359400	Weak transcription	HSMM	muscle
3	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
6	chr14:81338400-81350600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:81338800-81353800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:81339600-81351600	Weak transcription	Brain Substantia Nigra	brain
9	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:81340000-81354400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:81341800-81350800	Weak transcription	Fetal Intestine Small	intestine
12	chr14:81342800-81350800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:81342800-81352400	Weak transcription	Right Ventricle	heart
14	chr14:81343800-81350800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:81344400-81357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:81344600-81353200	Weak transcription	Fetal Stomach	stomach
17	chr14:81345000-81350800	Weak transcription	Pancreas	Pancrea
18	chr14:81345200-81350800	Weak transcription	Esophagus	oesophagus
19	chr14:81345200-81353200	Weak transcription	Ovary	ovary
20	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
21	chr14:81345400-81350800	Weak transcription	Lung	lung
22	chr14:81345400-81350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:81345400-81351200	Weak transcription	Spleen	Spleen
24	chr14:81345400-81355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:81345400-81356200	Weak transcription	Primary B cells from cord blood	blood
26	chr14:81345600-81350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:81345600-81350800	Weak transcription	Thymus	Thymus
28	chr14:81346600-81358200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:81347200-81358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:81348400-81350800	Weak transcription	Adipose Nuclei	Adipose
32	chr14:81348400-81352800	Weak transcription	Liver	Liver
33	chr14:81348400-81355000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:81348400-81357200	Weak transcription	A549	lung
35	chr14:81348800-81350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:81348800-81353200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:81349200-81350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:81349200-81350000	Weak transcription	Fetal Thymus	thymus
39	chr14:81349200-81350400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:81349200-81350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:81349200-81352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:81349200-81356200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr14:81349200-81357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:81349400-81350400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:81349600-81350200	Weak transcription	Dnd41	blood
46	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain

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