Variant report

Variant	rs17556536
Chromosome Location	chr2:40269291-40269292
allele	A/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	MAFK	chr2:40269210-40269522	IMR90	lung:	n/a	chr2:40269211-40269226 chr2:40269317-40269327 chr2:40269315-40269324
2	CEBPB	chr2:40269113-40269506	IMR90	lung:	n/a	n/a
3	SPI1	chr2:40268963-40269566	HL-60	blood:	n/a	n/a
4	SPI1	chr2:40269087-40269455	HL-60	blood:	n/a	n/a
5	FOS	chr2:40269241-40269462	MCF10A-Er-Src	breast:	n/a	chr2:40269317-40269325 chr2:40269317-40269325 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269317-40269324
6	RCOR1	chr2:40269068-40270076	IMR90	lung:	n/a	n/a
7	CTCF	chr2:40269220-40269370	HBMEC	blood vessel:	n/a	n/a
8	RAD21	chr2:40269178-40269506	IMR90	lung:	n/a	n/a
9	FOS	chr2:40269225-40269393	MCF10A-Er-Src	breast:	n/a	chr2:40269317-40269325 chr2:40269317-40269325 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269317-40269324
10	CTCF	chr2:40269280-40269430	AG10803	skin:	n/a	n/a
11	FOS	chr2:40269176-40269477	MCF10A-Er-Src	breast:	n/a	chr2:40269317-40269325 chr2:40269317-40269325 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269317-40269324
12	FOS	chr2:40269199-40269376	MCF10A-Er-Src	breast:	n/a	chr2:40269317-40269325 chr2:40269317-40269325 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269317-40269324
13	FOSL2	chr2:40269221-40269429	HepG2	liver:	n/a	chr2:40269317-40269325 chr2:40269317-40269325 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269316-40269326 chr2:40269317-40269324
14	MAZ	chr2:40269126-40269531	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
SLC8A1-AS1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17500300	1.00[AFR][1000 genomes]
rs62148715	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv581501	chr2:40256218-40285145	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40262800-40270200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:40262800-40270200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:40264800-40270600	Weak transcription	Right Atrium	heart
4	chr2:40265400-40270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:40265600-40270200	Enhancers	HSMM	muscle
6	chr2:40266600-40270800	Enhancers	NHLF	lung
7	chr2:40268000-40271000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40268200-40270400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:40268200-40270600	Enhancers	Fetal Stomach	stomach
10	chr2:40268200-40270800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:40268200-40271800	Enhancers	NHDF-Ad	bronchial
12	chr2:40268400-40270200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:40268400-40270400	Enhancers	Osteobl	bone
14	chr2:40268400-40271000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:40268600-40269400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:40268600-40269800	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:40268600-40270000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:40268600-40270800	Enhancers	NH-A	brain
19	chr2:40268800-40269800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr2:40269000-40269400	Enhancers	Fetal Lung	lung
21	chr2:40269000-40269400	Enhancers	HMEC	breast
22	chr2:40269000-40269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:40269200-40269400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:40269200-40269600	Enhancers	Fetal Brain Male	brain

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