Variant report

Variant	rs10930827
Chromosome Location	chr2:179056079-179056080
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	NFYB	chr2:179055945-179056260	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:179052165..179056550-chr2:179057804..179060174,6	MCF-7	breast:
2	chr2:179054368..179057331-chr2:179057745..179062443,7	K562	blood:
3	chr2:179054368..179057331-chr2:179058369..179060505,5	K562	blood:
4	chr2:178976327..178979048-chr2:179055214..179057976,2	K562	blood:

Variant related genes	Relation type
OSBPL6	TF binding region
ENSG00000155636	Chromatin interaction
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs101266	0.81[JPT][hapmap]
rs10173229	0.85[ASN][1000 genomes]
rs10197166	0.87[JPT][hapmap]
rs10930824	0.93[ASN][1000 genomes]
rs10930826	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11883528	0.91[ASN][1000 genomes]
rs11886090	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185670	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs12613853	0.91[MEX][hapmap]
rs12620314	0.89[ASN][1000 genomes]
rs12623701	0.93[ASN][1000 genomes]
rs13001608	0.98[ASN][1000 genomes]
rs13004218	0.91[ASN][1000 genomes]
rs13004565	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006877	0.80[MEX][hapmap]
rs13007977	0.89[ASN][1000 genomes]
rs13390231	0.86[ASN][1000 genomes]
rs13403689	0.81[JPT][hapmap]
rs1374257	0.84[ASN][1000 genomes]
rs147180	0.81[JPT][hapmap]
rs186736	0.87[JPT][hapmap]
rs1900251	0.83[ASN][1000 genomes]
rs2116544	0.91[ASN][1000 genomes]
rs2366157	0.87[JPT][hapmap]
rs2366366	0.91[MEX][hapmap]
rs333997	0.81[JPT][hapmap]
rs334024	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs334028	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs334035	0.87[JPT][hapmap]
rs334037	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs334041	0.81[JPT][hapmap]
rs334043	0.81[JPT][hapmap]
rs334044	0.81[JPT][hapmap]
rs334051	0.84[ASN][1000 genomes]
rs334062	0.80[MEX][hapmap]
rs334102	0.81[JPT][hapmap]
rs334103	0.81[JPT][hapmap]
rs334110	0.81[JPT][hapmap]
rs34238455	0.91[ASN][1000 genomes]
rs34477946	0.91[ASN][1000 genomes]
rs35776135	0.91[ASN][1000 genomes]
rs4638831	0.93[ASN][1000 genomes]
rs4893848	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4893999	0.87[ASN][1000 genomes]
rs4894000	0.86[ASN][1000 genomes]
rs551368	0.81[JPT][hapmap]
rs62176039	0.84[ASN][1000 genomes]
rs6719178	0.87[JPT][hapmap]
rs7419749	0.90[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap]
rs7581504	0.81[JPT][hapmap]
rs7583174	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7591476	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7596504	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10930827	FKBP7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179037000-179056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:179052600-179057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:179055800-179056200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr2:179055800-179056200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr2:179055800-179056200	Active TSS	Primary hematopoietic stem cells	blood
6	chr2:179055800-179056200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:179055800-179056200	Enhancers	K562	blood
8	chr2:179055800-179058000	Enhancers	Liver	Liver
9	chr2:179056000-179056200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:179056000-179056200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:179056000-179056200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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