Variant report

Variant	rs448714
Chromosome Location	chr5:111703577-111703578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111698176..111701130-chr5:111702890..111704978,2	K562	blood:
2	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248350	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10039730	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10044406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10051512	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10060962	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10061025	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10068969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10068974	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10069608	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10069773	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10071058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10071862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10079307	1.00[JPT][hapmap]
rs10478081	1.00[JPT][hapmap]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478084	1.00[JPT][hapmap]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12187850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13354202	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1524423	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1554624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17134381	1.00[JPT][hapmap]
rs17134382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17134384	0.84[ASN][1000 genomes]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134454	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs386446	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs388383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6594596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs66537821	1.00[ASN][1000 genomes]
rs6860402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6863425	0.84[ASN][1000 genomes]
rs6863610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6865127	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6875349	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6878092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6878158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs721054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs721055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72781676	0.84[ASN][1000 genomes]
rs7702999	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7706551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7706737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7709879	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7709963	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7710041	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7710507	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7714258	1.00[JPT][hapmap]
rs7716246	1.00[JPT][hapmap]
rs7716394	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7720272	0.92[ASN][1000 genomes]
rs7725728	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7730739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7737622	1.00[JPT][hapmap]
rs821739	1.00[JPT][hapmap]
rs821746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9326853	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs985873	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9885137	1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999243	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs448714	SNORA13	cis	parietal	SCAN
rs448714	EPB41L4A	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111685200-111707000	Weak transcription	Ovary	ovary
2	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
3	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
4	chr5:111701400-111703600	Enhancers	Fetal Heart	heart
5	chr5:111701600-111712200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:111701800-111704600	Enhancers	Right Atrium	heart
7	chr5:111701800-111704800	Enhancers	Left Ventricle	heart
8	chr5:111702600-111704000	Weak transcription	Lung	lung
9	chr5:111702800-111707000	Weak transcription	Gastric	stomach
10	chr5:111703400-111703800	Weak transcription	Right Ventricle	heart
11	chr5:111703400-111706800	Weak transcription	K562	blood
12	chr5:111703400-111707000	Weak transcription	Pancreas	Pancrea
13	chr5:111703400-111708800	Weak transcription	Adipose Nuclei	Adipose

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