Variant report

Variant	rs28771140
Chromosome Location	chr14:77991672-77991673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10131773	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147810	0.98[ASN][1000 genomes]
rs12589478	0.82[ASN][1000 genomes]
rs2299911	0.83[ASN][1000 genomes]
rs28393685	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28676801	0.83[ASN][1000 genomes]
rs28716286	0.83[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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77970800-77992600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:77971600-77991800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:77972000-78018000	Weak transcription	Hela-S3	cervix
5	chr14:77972600-77992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:77978000-78013400	Weak transcription	NHDF-Ad	bronchial
7	chr14:77978400-77992000	Weak transcription	NHLF	lung
8	chr14:77978600-77992400	Weak transcription	Fetal Lung	lung
9	chr14:77978600-78014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:77978800-77992800	Weak transcription	Fetal Brain Female	brain
11	chr14:77978800-78042200	Weak transcription	Fetal Brain Male	brain
12	chr14:77979000-78003800	Weak transcription	K562	blood
13	chr14:77979000-78009400	Weak transcription	Stomach Mucosa	stomach
14	chr14:77979000-78013800	Weak transcription	Pancreas	Pancrea
15	chr14:77979400-77997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:77982800-77999800	Weak transcription	A549	lung
17	chr14:77985200-77991800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:77985200-78008800	Weak transcription	Gastric	stomach
19	chr14:77985200-78014800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:77985400-78007800	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:77985400-78015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:77985600-78007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:77986200-78013800	Weak transcription	Esophagus	oesophagus
24	chr14:77986800-78008600	Weak transcription	Brain Germinal Matrix	brain
25	chr14:77987400-77999400	Weak transcription	Fetal Intestine Small	intestine
26	chr14:77987400-78009200	Weak transcription	Aorta	Aorta
27	chr14:77987400-78021000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:77987600-78010200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:77987600-78010600	Weak transcription	Left Ventricle	heart
30	chr14:77987800-77992400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:77987800-77992800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:77987800-77997000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:77987800-77997200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:77987800-77997400	Weak transcription	Brain Angular Gyrus	brain
35	chr14:77987800-77999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:77987800-78007200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:77987800-78008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:77987800-78008800	Weak transcription	Fetal Thymus	thymus
39	chr14:77987800-78013400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:77987800-78013600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:77987800-78013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:77987800-78014600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:77987800-78014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:77987800-78014800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:77987800-78015000	Weak transcription	Thymus	Thymus
46	chr14:77987800-78015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:77988000-77992400	Weak transcription	Liver	Liver
49	chr14:77988000-77993400	Weak transcription	Ovary	ovary
50	chr14:77988000-77997000	Weak transcription	GM12878-XiMat	blood

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