Variant report

Variant	rs6996806
Chromosome Location	chr8:130100144-130100145
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10435553	0.94[ASN][1000 genomes]
rs10435554	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10435555	0.94[ASN][1000 genomes]
rs10448000	0.90[ASN][1000 genomes]
rs10505531	0.85[EUR][1000 genomes]
rs10956465	0.83[AMR][1000 genomes]
rs11992003	0.95[EUR][1000 genomes]
rs12541644	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541935	0.94[ASN][1000 genomes]
rs12543251	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13248403	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1372442	0.82[AFR][1000 genomes]
rs1372443	0.82[AFR][1000 genomes]
rs16903947	0.85[EUR][1000 genomes]
rs34294444	0.94[ASN][1000 genomes]
rs34294531	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34495693	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34871599	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34892339	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35658327	0.94[ASN][1000 genomes]
rs35721910	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4236737	0.82[AFR][1000 genomes]
rs4289775	0.85[AMR][1000 genomes]
rs4302810	0.82[AFR][1000 genomes]
rs4310170	0.85[AMR][1000 genomes]
rs4333552	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4371972	0.82[AFR][1000 genomes]
rs4385435	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4403372	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4493878	0.94[ASN][1000 genomes]
rs4551306	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4566994	0.94[ASN][1000 genomes]
rs4733538	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4733672	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs57797099	0.94[ASN][1000 genomes]
rs59669561	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470676	0.82[AFR][1000 genomes]
rs6470677	0.82[AFR][1000 genomes]
rs6470687	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470692	0.88[AFR][1000 genomes]
rs6470694	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66748173	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs66879839	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67401439	0.94[ASN][1000 genomes]
rs67459926	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6982195	0.85[AMR][1000 genomes]
rs6989490	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994850	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6998898	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7001827	0.85[AMR][1000 genomes]
rs7004935	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013044	0.91[EUR][1000 genomes]
rs73382040	0.94[ASN][1000 genomes]
rs73382043	0.94[ASN][1000 genomes]
rs7815639	0.94[ASN][1000 genomes]
rs7816364	0.94[ASN][1000 genomes]
rs7820114	0.81[AFR][1000 genomes]
rs7832166	0.94[ASN][1000 genomes]
rs7832400	0.94[ASN][1000 genomes]
rs7832457	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7832834	0.94[ASN][1000 genomes]
rs7833157	0.94[ASN][1000 genomes]
rs7834731	0.84[AFR][1000 genomes]
rs7836336	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7840107	0.94[ASN][1000 genomes]
rs7843664	0.84[AFR][1000 genomes]
rs7843894	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9650100	0.94[ASN][1000 genomes]
rs9650101	0.94[ASN][1000 genomes]

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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130094800-130112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:130099200-130100400	Weak transcription	NH-A	brain
4	chr8:130099200-130100800	Strong transcription	Fetal Thymus	thymus
5	chr8:130099800-130100400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:130099800-130100600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:130099800-130100800	Enhancers	HSMM	muscle
8	chr8:130099800-130100800	Enhancers	Osteobl	bone
9	chr8:130100000-130100800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:130100000-130101000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:130100000-130104000	Genic enhancers	Dnd41	blood

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