Variant report

Variant	rs4930850
Chromosome Location	chr12:29241400-29241401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29241262..29242110-chr12:29395220..29395818,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10734770	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743643	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1121577	0.80[ASN][1000 genomes]
rs11502454	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12305429	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12309591	0.83[EUR][1000 genomes]
rs12311115	0.82[EUR][1000 genomes]
rs1353460	0.84[EUR][1000 genomes]
rs1390542	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1496221	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1865763	0.84[EUR][1000 genomes]
rs1865764	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2164493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2196479	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28544897	0.82[EUR][1000 genomes]
rs3940535	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930849	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930852	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931154	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60329521	0.84[EUR][1000 genomes]
rs6487757	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487764	0.89[ASN][1000 genomes]
rs67760969	0.82[EUR][1000 genomes]
rs716704	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304088	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315912	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316030	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73254758	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73254786	0.84[EUR][1000 genomes]
rs7964313	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7966290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7966398	1.00[CHB][hapmap];1.00[JPT][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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4930850	YARS2	cis	parietal	SCAN
rs4930850	IFLTD1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29240600-29245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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