Variant report

Variant	rs4312145
Chromosome Location	chr12:31754634-31754635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:31754218-31754929	K562	blood:	n/a	n/a
2	STAT1	chr12:31754612-31755007	Hela-S3	cervix:	n/a	chr12:31754790-31754810 chr12:31754795-31754804 chr12:31754793-31754807 chr12:31754794-31754805 chr12:31754796-31754805

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-1	chr12:31754619-31754788	ENSG00000255867.1
2	lnc-METTL20-1	chr12:31754614-31754788	ENSG00000255867.1

Variant related genes	Relation type
RPL31P50	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1150942	0.84[ASN][1000 genomes]
rs1150943	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150945	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150954	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150955	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1150963	0.84[ASN][1000 genomes]
rs1259233	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259241	0.84[ASN][1000 genomes]
rs1259353	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259354	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259356	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1259359	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1259386	0.89[ASN][1000 genomes]
rs1259395	0.82[EUR][1000 genomes]
rs1259405	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1259426	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1259435	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259437	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1259438	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259441	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1262390	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1272773	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1542536	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677173	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1677186	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1677187	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1677217	0.89[EUR][1000 genomes]
rs1716210	0.84[EUR][1000 genomes]
rs2061761	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2604052	0.89[ASN][1000 genomes]
rs2617178	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793173	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793174	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793175	0.81[ASN][1000 genomes]
rs793177	0.84[ASN][1000 genomes]
rs899159	0.89[ASN][1000 genomes]
rs976874	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31745400-31760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:31750200-31758000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:31752800-31757200	Enhancers	Primary B cells from cord blood	blood
4	chr12:31753200-31754800	Enhancers	HUVEC	blood vessel
5	chr12:31753800-31754800	Weak transcription	GM12878-XiMat	blood
6	chr12:31753800-31756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:31754200-31754800	Active TSS	Placenta	Placenta

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