Variant report

Variant	rs10519409
Chromosome Location	chr5:114806387-114806388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10037359	0.94[ASN][1000 genomes]
rs10037405	0.91[ASN][1000 genomes]
rs10519408	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162303	0.82[EUR][1000 genomes]
rs17137802	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35615508	0.89[EUR][1000 genomes]
rs67370339	0.91[EUR][1000 genomes]
rs72815270	0.86[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114795400-114806800	Weak transcription	Right Ventricle	heart
2	chr5:114798000-114807200	Weak transcription	Psoas Muscle	Psoas
3	chr5:114798000-114807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:114798400-114806800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:114800000-114807200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:114800800-114807600	Weak transcription	Fetal Heart	heart
7	chr5:114801400-114806800	Weak transcription	NHDF-Ad	bronchial
8	chr5:114801800-114806800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:114801800-114807000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:114802200-114807200	Weak transcription	Gastric	stomach
11	chr5:114803600-114806800	Weak transcription	Fetal Lung	lung
12	chr5:114804000-114807400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:114804000-114807600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:114805400-114809800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:114805400-114810200	Enhancers	Fetal Muscle Leg	muscle
16	chr5:114805600-114806600	Enhancers	Left Ventricle	heart
17	chr5:114805800-114806800	Weak transcription	Fetal Brain Female	brain
18	chr5:114805800-114807200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:114805800-114807400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:114805800-114810400	Enhancers	Fetal Brain Male	brain
21	chr5:114806000-114807200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:114806000-114807400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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