Variant report

Variant	rs12608942
Chromosome Location	chr19:35892850-35892851
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	NFIC	chr19:35892375-35892856	GM12878	blood:	n/a	n/a
2	RUNX3	chr19:35892317-35892945	GM12878	blood:	n/a	n/a
3	EBF1	chr19:35892368-35892887	GM12878	blood:	n/a	chr19:35892598-35892609 chr19:35892586-35892597 chr19:35892615-35892626
4	FOXM1	chr19:35892285-35892890	GM12878	blood:	n/a	n/a
5	ATF2	chr19:35892229-35892951	GM12878	blood:	n/a	n/a
6	PML	chr19:35892394-35892905	GM12878	blood:	n/a	n/a
7	NFIC	chr19:35892281-35892913	GM12878	blood:	n/a	n/a
8	EBF1	chr19:35892365-35892892	GM12878	blood:	n/a	chr19:35892598-35892609 chr19:35892586-35892597 chr19:35892615-35892626
9	BCL3	chr19:35892368-35892867	GM12878	blood:	n/a	n/a
10	MTA3	chr19:35892223-35892903	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000205786	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12608520	0.96[ASN][1000 genomes]
rs12609641	0.96[ASN][1000 genomes]
rs12609661	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12610119	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12610992	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12611325	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12972897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12975528	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12977409	0.96[ASN][1000 genomes]
rs12980178	0.92[ASN][1000 genomes]
rs34465330	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34746896	0.96[ASN][1000 genomes]
rs35163547	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218044	0.96[ASN][1000 genomes]
rs35371131	0.96[ASN][1000 genomes]
rs35410394	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35487056	1.00[ASN][1000 genomes]
rs36005447	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4806147	0.96[ASN][1000 genomes]
rs68149281	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs71352985	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71352987	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71352990	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247482	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7254239	0.92[ASN][1000 genomes]
rs7343167	0.92[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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv2471	chr19:35837405-35903115	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv911626	chr19:35856925-35896467	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv911627	chr19:35856925-35921266	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr19:35886800-35899200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:35887000-35894600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:35887000-35896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:35887200-35894000	Weak transcription	Spleen	Spleen
5	chr19:35887200-35895800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:35891000-35893400	Weak transcription	Left Ventricle	heart
7	chr19:35891000-35894400	Weak transcription	Right Atrium	heart
8	chr19:35891400-35894200	Weak transcription	Fetal Heart	heart
9	chr19:35891800-35896000	Enhancers	GM12878-XiMat	blood
10	chr19:35892000-35894200	Weak transcription	Right Ventricle	heart
11	chr19:35892800-35894400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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