Variant report

Variant	rs4869151
Chromosome Location	chr5:96523921-96523922
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96518678..96521273-chr5:96521348..96524678,3	MCF-7	breast:
2	chr5:96521334..96524159-chr5:96530024..96533344,3	K562	blood:
3	chr5:96521057..96523981-chr5:96536109..96539029,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIOK2-1	chr5:96523794-96523947	ENSG00000248758.1

Variant related genes	Relation type
ENSG00000058729	Chromatin interaction
ENSG00000251513	Chromatin interaction
ENSG00000248758	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10044182	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs10070105	0.83[AFR][1000 genomes]
rs10515256	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13171520	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs1423501	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1423502	0.80[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1423503	0.85[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1423504	0.89[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17630601	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1845652	0.82[JPT][hapmap];0.92[MKK][hapmap]
rs28496199	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28808625	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34122360	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35498938	0.84[ASN][1000 genomes]
rs4032064	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4073423	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4869322	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4869324	0.85[CHB][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap]
rs56267018	0.82[AFR][1000 genomes]
rs67340817	0.83[AFR][1000 genomes]
rs6861811	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72777631	0.84[ASN][1000 genomes]
rs72777640	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	15 gene(s)	inside rSNPs	diseases
7	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96519200-96526200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:96520000-96528200	Weak transcription	NHEK	skin
3	chr5:96520000-96531600	Weak transcription	HSMM	muscle
4	chr5:96520000-96534800	Weak transcription	Left Ventricle	heart
5	chr5:96520200-96524600	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:96520200-96524800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:96521000-96524400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:96521600-96530000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:96522800-96528400	Weak transcription	Primary B cells from cord blood	blood
10	chr5:96523000-96528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:96523200-96525200	Weak transcription	Dnd41	blood

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