Variant report

Variant	rs28368992
Chromosome Location	chr8:20140556-20140557
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28475243	1.00[EUR][1000 genomes]
rs28485611	1.00[EUR][1000 genomes]
rs28552383	1.00[EUR][1000 genomes]
rs28621370	1.00[EUR][1000 genomes]
rs2898498	1.00[EUR][1000 genomes]
rs34062067	1.00[EUR][1000 genomes]
rs57127754	1.00[EUR][1000 genomes]
rs57435297	1.00[EUR][1000 genomes]
rs6986012	1.00[EUR][1000 genomes]
rs7009375	1.00[EUR][1000 genomes]
rs73669730	1.00[EUR][1000 genomes]
rs73669753	1.00[EUR][1000 genomes]
rs73669754	1.00[EUR][1000 genomes]
rs73669756	1.00[EUR][1000 genomes]
rs7834224	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv890644	chr8:20138477-20162213	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
2	chr8:20135800-20141200	Weak transcription	Right Atrium	heart
3	chr8:20136000-20144000	Weak transcription	Esophagus	oesophagus
4	chr8:20137400-20141400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:20137400-20143600	Genic enhancers	Dnd41	blood
6	chr8:20137600-20141000	Enhancers	Fetal Muscle Leg	muscle
7	chr8:20137600-20141400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:20138400-20143800	Weak transcription	Brain Anterior Caudate	brain
9	chr8:20138400-20144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:20138600-20143800	Weak transcription	Fetal Brain Male	brain
11	chr8:20138800-20145600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:20139000-20140600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:20139000-20141600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:20139200-20141600	Genic enhancers	HSMM	muscle
15	chr8:20139200-20141800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:20139200-20142000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:20139200-20142400	Enhancers	NHLF	lung
18	chr8:20139200-20142800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:20139200-20142800	Enhancers	NHDF-Ad	bronchial
20	chr8:20139400-20141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:20139600-20141000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:20139800-20141400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:20140000-20141000	Weak transcription	Left Ventricle	heart
24	chr8:20140000-20141200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:20140000-20141200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:20140000-20145400	Weak transcription	Placenta	Placenta
27	chr8:20140200-20141200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:20140200-20141200	Weak transcription	Osteobl	bone
29	chr8:20140200-20141600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:20140200-20141800	Weak transcription	NH-A	brain
31	chr8:20140200-20142600	Weak transcription	HMEC	breast
32	chr8:20140200-20145400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:20140400-20140600	Weak transcription	Brain Germinal Matrix	brain
34	chr8:20140400-20140800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:20140400-20141400	ZNF genes & repeats	Fetal Brain Female	brain
36	chr8:20140400-20141800	Genic enhancers	HSMMtube	muscle

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