Variant report

Variant	rs10130783
Chromosome Location	chr14:56181518-56181519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10498477	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873090	0.94[ASN][1000 genomes]
rs11158049	0.94[ASN][1000 genomes]
rs11621130	0.93[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs12431962	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12432001	0.94[ASN][1000 genomes]
rs12432019	0.94[ASN][1000 genomes]
rs2342585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2342586	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2880396	0.90[ASN][1000 genomes]
rs6573055	0.90[ASN][1000 genomes]
rs7147303	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152314	0.90[ASN][1000 genomes]
rs8015301	0.90[ASN][1000 genomes]
rs8021103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
2	chr14:56154000-56191000	Weak transcription	Aorta	Aorta
3	chr14:56169600-56182400	Weak transcription	GM12878-XiMat	blood
4	chr14:56170000-56182400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:56170400-56182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:56172200-56182200	Weak transcription	HSMM	muscle
7	chr14:56172600-56182200	Weak transcription	HSMMtube	muscle
8	chr14:56174200-56182400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:56174600-56182400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:56178000-56182400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:56178000-56182400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:56178200-56183400	Weak transcription	Left Ventricle	heart
13	chr14:56178400-56182400	Weak transcription	NHLF	lung
14	chr14:56179800-56181600	Weak transcription	Fetal Heart	heart
15	chr14:56179800-56188800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:56179800-56189000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:56180000-56182400	Weak transcription	Adipose Nuclei	Adipose
18	chr14:56180000-56183200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:56180400-56182400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:56180600-56182400	Weak transcription	Placenta	Placenta
21	chr14:56180800-56183200	Weak transcription	Fetal Muscle Trunk	muscle

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