Variant report

Variant	rs12718290
Chromosome Location	chr7:48676230-48676231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12718292	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13221147	1.00[CHD][hapmap]
rs13223000	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs13224880	1.00[CHD][hapmap]
rs13228431	1.00[CHD][hapmap]
rs13230347	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs13234438	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13234500	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13237182	1.00[CHD][hapmap]
rs13244837	0.84[AMR][1000 genomes]
rs1527836	1.00[CHD][hapmap]
rs17132435	1.00[CHD][hapmap]
rs17132489	1.00[CHD][hapmap]
rs34021932	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34598210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35302464	0.94[EUR][1000 genomes]
rs35316325	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35483521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62447337	0.90[EUR][1000 genomes]
rs62447338	0.88[EUR][1000 genomes]
rs62447353	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62447359	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62448770	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6583453	1.00[CHD][hapmap]
rs6946184	0.83[GIH][hapmap]
rs7785482	1.00[CHD][hapmap]

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	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv606894	chr7:48663637-48718598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48672400-48683000	Weak transcription	Fetal Lung	lung
2	chr7:48672600-48676800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:48672600-48677200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:48672600-48679600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:48672600-48688800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:48674200-48676400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:48674800-48678200	Enhancers	Fetal Heart	heart
8	chr7:48675000-48677800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:48675200-48678000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:48675600-48678200	Enhancers	HMEC	breast
11	chr7:48675800-48677200	Enhancers	Left Ventricle	heart
12	chr7:48675800-48677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:48675800-48677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:48675800-48677600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:48676000-48676400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:48676000-48676800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:48676000-48677000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:48676000-48677600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:48676000-48678200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:48676200-48676400	Enhancers	Esophagus	oesophagus
21	chr7:48676200-48676600	Weak transcription	Right Atrium	heart
22	chr7:48676200-48676600	Flanking Active TSS	NHEK	skin
23	chr7:48676200-48677000	Weak transcription	Spleen	Spleen
24	chr7:48676200-48677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:48676200-48678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:48676200-48678000	Enhancers	NH-A	brain
27	chr7:48676200-48679000	Weak transcription	Right Ventricle	heart

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