Variant report

Variant	rs72689031
Chromosome Location	chr14:80981911-80981912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12147045	0.81[EUR][1000 genomes]
rs2167149	0.95[EUR][1000 genomes]
rs72687396	0.83[AFR][1000 genomes]
rs72689020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72689029	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80941600-80989200	Weak transcription	Left Ventricle	heart
2	chr14:80951800-81003000	Weak transcription	Psoas Muscle	Psoas
3	chr14:80962200-80997800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:80968400-80990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:80971800-80994400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:80978600-81006600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:80978800-80982000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:80979400-80986200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:80979400-80986200	Strong transcription	Dnd41	blood
10	chr14:80979600-80991600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:80979600-80993200	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:80979800-80990200	Weak transcription	Brain Germinal Matrix	brain
13	chr14:80980400-80982800	Weak transcription	Right Ventricle	heart
14	chr14:80980400-80983000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:80980400-80988600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:80980400-80993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:80980600-80982800	Weak transcription	Small Intestine	intestine
18	chr14:80980600-80985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:80980600-81001600	Weak transcription	Fetal Lung	lung
20	chr14:80980800-80982200	Strong transcription	Primary T cells from cord blood	blood
21	chr14:80980800-80988600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:80981000-80982400	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:80981000-80983000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:80981200-80982200	Strong transcription	Fetal Thymus	thymus
25	chr14:80981200-80982400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:80981200-80983200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:80981200-80984400	Strong transcription	Thymus	Thymus
28	chr14:80981200-80993000	Weak transcription	Ovary	ovary
29	chr14:80981400-80982200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr14:80981400-80982200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr14:80981400-80982200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:80981400-80982200	ZNF genes & repeats	A549	lung
33	chr14:80981400-80982200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr14:80981400-80983200	Strong transcription	HSMM	muscle
35	chr14:80981400-80984200	Weak transcription	Esophagus	oesophagus
36	chr14:80981600-80982200	ZNF genes & repeats	Lung	lung
37	chr14:80981600-80982400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:80981600-80982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:80981600-80983200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:80981600-80990400	Weak transcription	Gastric	stomach
41	chr14:80981600-80996000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:80981800-80983000	ZNF genes & repeats	Aorta	Aorta
43	chr14:80981800-80993400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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