Variant report

Variant	rs12677666
Chromosome Location	chr8:20142119-20142120
allele	C/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:11)

rs_ID	r²[population]
rs11204109	0.91[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.88[ASN][1000 genomes]
rs12114422	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs12545373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546414	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547641	0.90[ASN][1000 genomes]
rs12675554	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60077789	0.91[ASN][1000 genomes]
rs62499991	0.92[ASN][1000 genomes]
rs62499992	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62499993	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7016149	0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
2	chr8:20136000-20144000	Weak transcription	Esophagus	oesophagus
3	chr8:20137400-20143600	Genic enhancers	Dnd41	blood
4	chr8:20138400-20143800	Weak transcription	Brain Anterior Caudate	brain
5	chr8:20138400-20144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:20138600-20143800	Weak transcription	Fetal Brain Male	brain
7	chr8:20138800-20145600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:20139200-20142400	Enhancers	NHLF	lung
9	chr8:20139200-20142800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:20139200-20142800	Enhancers	NHDF-Ad	bronchial
11	chr8:20140000-20145400	Weak transcription	Placenta	Placenta
12	chr8:20140200-20142600	Weak transcription	HMEC	breast
13	chr8:20140200-20145400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:20141200-20142400	Enhancers	Osteobl	bone
15	chr8:20141200-20142800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:20141400-20142800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:20141400-20143400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:20141600-20142200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:20141600-20142400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:20141600-20142600	Enhancers	Fetal Muscle Leg	muscle
21	chr8:20141600-20142600	Enhancers	GM12878-XiMat	blood
22	chr8:20141600-20143200	Enhancers	HSMM	muscle
23	chr8:20141600-20144000	Weak transcription	Brain Germinal Matrix	brain
24	chr8:20141800-20143000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:20141800-20143400	Weak transcription	Fetal Stomach	stomach
26	chr8:20141800-20145600	Weak transcription	Ovary	ovary
27	chr8:20141800-20146600	Weak transcription	HSMMtube	muscle
28	chr8:20142000-20142400	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:20142000-20142600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:20142000-20142800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:20142000-20143000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:20142000-20143400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:20142000-20144000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:20142000-20144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:20142000-20147400	Weak transcription	Muscle Satellite Cultured Cells	--

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