Variant report

Variant	rs4702116
Chromosome Location	chr5:15902603-15902604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10039391	1.00[CHB][hapmap]
rs1108419	1.00[CHB][hapmap]
rs12518662	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13173060	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16867713	1.00[CHB][hapmap]
rs4701644	1.00[CHB][hapmap]
rs4702104	1.00[CHB][hapmap]
rs4702106	1.00[CHB][hapmap]
rs72736133	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7707125	0.82[ASW][hapmap];0.81[LWK][hapmap];0.82[YRI][hapmap]
rs7715223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723811	0.82[ASW][hapmap];0.81[LWK][hapmap];0.82[YRI][hapmap]
rs7726523	0.82[ASW][hapmap];0.81[LWK][hapmap]
rs878963	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880755	chr5:15670377-15938553	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1031483	chr5:15738485-15926083	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv461986	chr5:15854098-15943683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv597292	chr5:15854098-15943683	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830216	chr5:15860662-16060420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv427712	chr5:15883439-16055856	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4702116	MYO10	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15899800-15906200	Enhancers	Fetal Lung	lung
2	chr5:15900000-15903400	Enhancers	Ovary	ovary
3	chr5:15900200-15915400	Weak transcription	Small Intestine	intestine
4	chr5:15900600-15906000	Enhancers	Brain Substantia Nigra	brain
5	chr5:15901000-15903200	Enhancers	Fetal Heart	heart
6	chr5:15901800-15903200	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:15902000-15903000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:15902000-15903200	Enhancers	Brain Hippocampus Middle	brain
9	chr5:15902000-15903200	Enhancers	Left Ventricle	heart
10	chr5:15902000-15903600	Enhancers	Fetal Stomach	stomach
11	chr5:15902200-15902800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:15902200-15903200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:15902200-15903200	Enhancers	Lung	lung
14	chr5:15902200-15903200	Enhancers	Right Atrium	heart
15	chr5:15902200-15903400	Enhancers	Brain Anterior Caudate	brain
16	chr5:15902200-15903400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:15902200-15905400	Enhancers	Brain Angular Gyrus	brain
18	chr5:15902400-15903200	Enhancers	Adipose Nuclei	Adipose
19	chr5:15902400-15903200	Enhancers	Colon Smooth Muscle	Colon
20	chr5:15902600-15903000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:15902600-15903200	Enhancers	Aorta	Aorta
22	chr5:15902600-15904400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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