Variant report

Variant	rs73930706
Chromosome Location	chr19:39756425-39756426
allele	C/T
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	E2F6	chr19:39755537-39756608	H1-hESC	embryonic stem cell:	n/a	chr19:39755834-39755844 chr19:39756458-39756467
2	E2F6	chr19:39754395-39756649	H1-hESC	embryonic stem cell:	n/a	chr19:39755834-39755844 chr19:39756458-39756467
3	USF2	chr19:39756339-39756458	H1-hESC	embryonic stem cell:	n/a	chr19:39756408-39756421
4	MAX	chr19:39755534-39756622	H1-hESC	embryonic stem cell:	n/a	chr19:39755765-39755775 chr19:39755765-39755774 chr19:39756459-39756469 chr19:39755763-39755776 chr19:39755764-39755775 chr19:39755765-39755775
5	USF1	chr19:39756233-39756531	H1-hESC	embryonic stem cell:	n/a	chr19:39756408-39756421
6	MAX	chr19:39755487-39756625	H1-hESC	embryonic stem cell:	n/a	chr19:39755765-39755775 chr19:39755765-39755774 chr19:39756459-39756469 chr19:39755763-39755776 chr19:39755764-39755775 chr19:39755765-39755775
7	RFX5	chr19:39756390-39756494	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr19:39756288-39756550	H1-hESC	embryonic stem cell:	n/a	chr19:39756459-39756469
9	SUZ12	chr19:39754491-39756453	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39751549..39753214-chr19:39756259..39759130,2	K562	blood:

Variant related genes	Relation type
IFNL2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs60885838	1.00[ASN][1000 genomes]
rs61379670	1.00[ASN][1000 genomes]
rs62122865	1.00[ASN][1000 genomes]
rs62122866	1.00[ASN][1000 genomes]
rs62122870	1.00[ASN][1000 genomes]
rs62122882	0.92[ASN][1000 genomes]
rs62122883	0.92[ASN][1000 genomes]
rs62122885	0.92[ASN][1000 genomes]
rs7246851	0.92[ASN][1000 genomes]
rs7247086	0.92[ASN][1000 genomes]
rs7247097	0.92[ASN][1000 genomes]
rs7247361	0.92[ASN][1000 genomes]
rs7251314	1.00[ASN][1000 genomes]
rs7252375	1.00[ASN][1000 genomes]
rs7254949	1.00[ASN][1000 genomes]
rs73544058	1.00[ASN][1000 genomes]
rs73544059	1.00[ASN][1000 genomes]
rs73544060	1.00[ASN][1000 genomes]
rs73544063	1.00[ASN][1000 genomes]
rs73544065	1.00[ASN][1000 genomes]

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	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911678	chr19:39710903-39763765	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
5	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 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	chr19:39754600-39756600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
2	chr19:39754600-39756800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:39754800-39756600	Bivalent Enhancer	Lung	lung
4	chr19:39754800-39756600	Bivalent Enhancer	Spleen	Spleen
5	chr19:39755600-39756600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
6	chr19:39755800-39756600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:39755800-39756600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:39756000-39756800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:39756200-39757200	Weak transcription	Right Atrium	heart
10	chr19:39756400-39756600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:39756400-39756600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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