Variant report

Variant	rs12680996
Chromosome Location	chr8:59455335-59455336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59454123..59456921-chr8:59465192..59467708,2	K562	blood:
2	chr8:59454868..59456984-chr8:59506073..59508390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10085973	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090425	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10092359	0.88[EUR][1000 genomes]
rs10094910	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099153	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099240	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099912	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10100873	0.88[EUR][1000 genomes]
rs10102709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10104292	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10104568	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs10106272	0.82[EUR][1000 genomes]
rs10110065	0.84[EUR][1000 genomes]
rs10110111	0.95[EUR][1000 genomes]
rs10111052	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111506	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113750	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1023649	0.82[CHB][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap]
rs1023650	0.82[CHB][hapmap]
rs10504256	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1050488	0.95[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs1050504	0.95[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs1125226	0.82[CHB][hapmap]
rs11774558	0.80[EUR][1000 genomes]
rs11775194	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs11776003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782455	0.83[CEU][hapmap]
rs11783174	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11785141	0.80[EUR][1000 genomes]
rs12335008	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541539	0.80[ASN][1000 genomes]
rs12542233	0.86[CHB][hapmap]
rs12543344	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12674568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676593	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12677290	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.90[ASN][1000 genomes]
rs12678669	0.87[EUR][1000 genomes]
rs12679938	0.88[TSI][hapmap]
rs12680104	0.95[EUR][1000 genomes]
rs1427162	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1457043	0.86[CHB][hapmap]
rs1582824	0.82[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs16923562	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923564	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17263989	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17272151	0.81[TSI][hapmap]
rs1976162	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1991359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162459	0.86[CHB][hapmap]
rs2279460	0.83[CEU][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs2279462	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs2634527	0.85[GIH][hapmap]
rs28429491	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650441	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28656336	0.89[EUR][1000 genomes]
rs28809811	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3739327	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3808609	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3816846	0.83[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs3903445	0.82[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap]
rs4282557	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4400366	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4400367	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4579515	0.81[ASW][hapmap];0.83[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4738690	0.80[ASN][1000 genomes]
rs55774738	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56249776	0.80[EUR][1000 genomes]
rs59979442	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471731	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984439	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs6986129	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995115	0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs7009248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011095	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014398	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016868	0.80[ASN][1000 genomes]
rs72647424	0.84[EUR][1000 genomes]
rs72647425	0.84[EUR][1000 genomes]
rs72647434	0.90[EUR][1000 genomes]
rs72647435	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7817515	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825996	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7826122	0.83[CEU][hapmap]
rs7827910	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833904	0.82[CHB][hapmap]
rs7840932	0.90[ASN][1000 genomes]
rs7843989	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7844231	0.83[CEU][hapmap]
rs8192871	0.86[CHB][hapmap]
rs9297995	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297996	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297997	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297998	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297999	0.95[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59451000-59456400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:59453000-59462200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:59453200-59456600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:59453200-59456600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:59453400-59457000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:59455200-59456000	Enhancers	Fetal Stomach	stomach
8	chr8:59455200-59456200	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:59455200-59456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links