Variant report

Variant	rs6994457
Chromosome Location	chr8:87138937-87138938
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87135891..87139399-chr8:87360674..87363160,4	MCF-7	breast:
2	chr8:87129568..87131142-chr8:87137421..87139422,2	MCF-7	breast:
3	chr8:87136101..87138942-chr8:87140052..87142177,2	MCF-7	breast:
4	chr8:87136561..87139259-chr8:87368853..87370693,2	K562	blood:
5	chr8:87134524..87140628-chr8:87352938..87357440,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10504820	0.92[CEU][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap]
rs10504821	0.94[JPT][hapmap]
rs10808539	0.94[JPT][hapmap]
rs10956194	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs11784259	0.81[JPT][hapmap];0.80[MEX][hapmap]
rs12550469	0.83[CEU][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap]
rs12550770	0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12677686	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1483779	0.92[CEU][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs17605526	0.85[CEU][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap]
rs1872136	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2006725	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2046370	0.81[CHB][hapmap]
rs2128930	0.92[CEU][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap]
rs2466326	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2626321	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2626322	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2626324	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2626326	0.92[CEU][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2626327	0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2626328	0.92[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2626329	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2626330	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2626331	0.92[CEU][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2626332	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2626334	0.86[ASN][1000 genomes]
rs2626339	0.92[CEU][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2626340	0.92[CEU][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2626342	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs2626345	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs2721244	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs2721249	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs2721250	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs2721251	0.92[CEU][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2721253	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2721256	0.92[CEU][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2721257	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2721258	0.89[ASN][1000 genomes]
rs2721260	0.92[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721262	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721263	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4584126	0.90[CHD][hapmap];0.94[JPT][hapmap]
rs4960957	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961056	0.90[CHB][hapmap]
rs4961065	0.90[CHB][hapmap]
rs4961081	0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6469859	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs6470734	0.85[CEU][hapmap]
rs6981984	0.85[CEU][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap]
rs6983781	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs6992915	0.92[CEU][hapmap];0.93[JPT][hapmap]
rs6999952	0.90[CHB][hapmap]
rs7005074	0.88[JPT][hapmap]
rs7011724	0.90[CEU][hapmap]
rs7820770	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs7827741	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7845147	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900637	0.85[ASN][1000 genomes]
rs953147	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs953148	0.92[CEU][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs958099	0.90[CHB][hapmap]
rs9656982	0.86[CHD][hapmap]
rs975818	0.92[CEU][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981711	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv2761443	chr8:87109368-87170814	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1020115	chr8:87111707-87167790	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1026646	chr8:87111707-87177368	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6994457	OSGIN2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87136400-87144200	Weak transcription	Fetal Heart	heart
2	chr8:87136600-87140800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:87137400-87142800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:87137400-87142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:87138000-87140000	Weak transcription	Liver	Liver
6	chr8:87138600-87141800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:87138600-87143400	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links