Variant report

Variant	rs10519408
Chromosome Location	chr5:114800912-114800913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10037359	0.94[ASN][1000 genomes]
rs10037405	0.91[ASN][1000 genomes]
rs10519409	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514865	0.85[EUR][1000 genomes]
rs13162303	0.87[EUR][1000 genomes]
rs17137802	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35615508	0.95[EUR][1000 genomes]
rs67370339	0.96[EUR][1000 genomes]
rs71579500	0.85[EUR][1000 genomes]
rs72815270	0.89[EUR][1000 genomes]
rs9687406	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114795400-114806800	Weak transcription	Right Ventricle	heart
2	chr5:114796200-114805600	Weak transcription	Left Ventricle	heart
3	chr5:114797600-114802800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:114798000-114807200	Weak transcription	Psoas Muscle	Psoas
5	chr5:114798000-114807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:114798200-114801400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:114798200-114802200	Weak transcription	A549	lung
8	chr5:114798400-114801600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:114798400-114802000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:114798400-114806800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:114798600-114801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:114798600-114803400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:114799200-114801600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:114799200-114801800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:114799400-114801400	Enhancers	NHDF-Ad	bronchial
16	chr5:114799400-114801400	Enhancers	NHLF	lung
17	chr5:114799800-114801400	Enhancers	HMEC	breast
18	chr5:114800000-114801600	Weak transcription	Fetal Lung	lung
19	chr5:114800000-114807200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:114800200-114805400	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:114800600-114801400	Enhancers	NH-A	brain
22	chr5:114800600-114801400	Enhancers	NHEK	skin
23	chr5:114800800-114801200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:114800800-114801200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:114800800-114807600	Weak transcription	Fetal Heart	heart

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