Variant report

Variant	rs62119376
Chromosome Location	chr19:42034545-42034546
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	SPI1	chr19:42034482-42034717	K562	blood:	n/a	n/a
2	FAM48A	chr19:42034468-42034644	GM12878	blood:	n/a	n/a
3	SPI1	chr19:42034431-42034752	GM12891	blood:	n/a	n/a
4	SPI1	chr19:42034458-42034730	GM12878	blood:	n/a	n/a
5	SPI1	chr19:42034541-42034732	GM12878	blood:	n/a	n/a
6	MXI1	chr19:42034528-42034598	H1-hESC	embryonic stem cell:	n/a	n/a
7	SETDB1	chr19:42034208-42038482	U2OS	brain:	n/a	n/a
8	IKZF1	chr19:42034473-42034824	GM12878	blood:	n/a	n/a
9	RUNX3	chr19:42034460-42034908	GM12878	blood:	n/a	n/a
10	FOS	chr19:42034364-42034835	MCF10A-Er-Src	breast:	n/a	n/a
11	RUNX3	chr19:42034488-42034858	GM12878	blood:	n/a	n/a
12	SPI1	chr19:42034430-42034857	HL-60	blood:	n/a	n/a
13	SPI1	chr19:42034411-42034739	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42032930..42034561-chr19:42036519..42039384,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268355	TF binding region
ENSG00000268355	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11881771	0.89[EUR][1000 genomes]
rs16975329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975336	1.00[EUR][1000 genomes]
rs62119363	0.89[EUR][1000 genomes]
rs62119364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119366	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119367	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119371	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119372	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119373	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119374	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62119416	1.00[EUR][1000 genomes]
rs62119419	0.89[EUR][1000 genomes]
rs62119420	0.89[EUR][1000 genomes]
rs62119421	0.89[EUR][1000 genomes]
rs62119449	0.89[EUR][1000 genomes]
rs62119450	0.89[EUR][1000 genomes]
rs7246864	0.89[EUR][1000 genomes]
rs7255763	0.89[EUR][1000 genomes]
rs7255775	0.89[EUR][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	nsv510767	chr19:41962486-42049165	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv579602	chr19:42015468-42047924	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42029000-42036200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:42029600-42034800	Weak transcription	Primary B cells from cord blood	blood
3	chr19:42029800-42034600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr19:42029800-42037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:42033600-42037600	ZNF genes & repeats	GM12878-XiMat	blood
6	chr19:42033800-42034600	Bivalent Enhancer	NHDF-Ad	bronchial
7	chr19:42033800-42034800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:42033800-42035400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr19:42034000-42034600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42034000-42036600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:42034000-42037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr19:42034200-42034800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:42034200-42035200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr19:42034200-42036800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr19:42034200-42036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:42034400-42034600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr19:42034400-42034600	Enhancers	Primary hematopoietic stem cells	blood
18	chr19:42034400-42034600	Bivalent Enhancer	Thymus	Thymus
19	chr19:42034400-42035000	Bivalent Enhancer	Fetal Lung	lung

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