Variant report

Variant	rs2188534
Chromosome Location	chr7:112050314-112050315
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr7:112050262-112050395	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr7:112050295-112050434	HepG2	liver:	n/a	n/a
3	JUND	chr7:112050260-112050629	Hela-S3	cervix:	n/a	n/a
4	FOS	chr7:112050222-112050612	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr7:112049554-112051862	SK-N-SH	brain:	n/a	n/a
6	SMC3	chr7:112050105-112051862	SK-N-SH	brain:	n/a	chr7:112050653-112050661
7	RAD21	chr7:112050034-112052306	SK-N-SH	brain:	n/a	n/a
8	FOS	chr7:112050210-112050622	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr7:112050243-112050611	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr7:112050115-112050695	SK-N-SH	brain:	n/a	n/a
11	FOS	chr7:112050196-112050615	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112049730..112052171-chr7:112053926..112056276,3	K562	blood:
2	chr7:112045125..112048422-chr7:112049738..112053855,5	K562	blood:
3	chr7:111494801..111495981-chr7:112050100..112051106,3	MCF-7	breast:
4	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
5	chr7:112049693..112052446-chr7:112089375..112092902,3	K562	blood:
6	chr7:111592856..111595719-chr7:112049563..112051825,3	MCF-7	breast:
7	chr7:112045125..112047686-chr7:112049738..112051786,2	K562	blood:
8	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226851	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000222346	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10046519	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10252741	0.80[ASN][1000 genomes]
rs10272976	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.83[ASN][1000 genomes]
rs11768719	0.83[ASN][1000 genomes]
rs11769219	0.81[CHD][hapmap]
rs12666911	0.84[ASN][1000 genomes]
rs12673259	0.84[ASN][1000 genomes]
rs2249151	0.85[ASN][1000 genomes]
rs2249157	0.85[ASN][1000 genomes]
rs2520470	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520471	0.84[ASN][1000 genomes]
rs2520473	0.84[ASN][1000 genomes]
rs2520474	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520475	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520476	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520482	1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2708588	0.81[CHD][hapmap]
rs2708592	0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs2708594	0.80[ASN][1000 genomes]
rs2708595	0.81[CHD][hapmap]
rs2708597	0.84[ASN][1000 genomes]
rs2708598	0.84[ASN][1000 genomes]
rs2708603	0.81[CHD][hapmap]
rs28781733	0.84[ASN][1000 genomes]
rs28805003	0.84[ASN][1000 genomes]
rs28817601	0.84[ASN][1000 genomes]
rs34171150	0.80[ASN][1000 genomes]
rs3823514	0.83[ASN][1000 genomes]
rs4730529	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs66788052	0.84[ASN][1000 genomes]
rs735150	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7781261	0.87[ASN][1000 genomes]
rs7781393	0.87[ASN][1000 genomes]
rs886353	1.00[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 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	chr7:112046000-112050600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:112046000-112050800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:112046000-112051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:112048400-112050600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:112049600-112051200	Enhancers	Fetal Lung	lung
7	chr7:112050000-112050400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:112050000-112050600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:112050000-112051400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:112050200-112050400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:112050200-112051800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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