Variant report

Variant	rs6993010
Chromosome Location	chr8:127864194-127864195
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	chr8:127863317..127865201-chr8:127865656..127867797,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10106550	0.99[ASN][1000 genomes]
rs10156279	0.98[ASN][1000 genomes]
rs10505487	0.97[ASN][1000 genomes]
rs10505488	0.86[ASN][1000 genomes]
rs10505489	0.94[ASN][1000 genomes]
rs10505490	0.88[ASN][1000 genomes]
rs10808552	0.81[EUR][1000 genomes]
rs10956330	0.92[ASN][1000 genomes]
rs10956331	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956332	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956333	0.95[EUR][1000 genomes]
rs11779539	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11986860	0.98[ASN][1000 genomes]
rs11987858	0.91[ASN][1000 genomes]
rs11989801	0.98[ASN][1000 genomes]
rs11992578	0.98[ASN][1000 genomes]
rs12545906	0.97[ASN][1000 genomes]
rs13248340	0.88[ASN][1000 genomes]
rs13254736	0.82[ASN][1000 genomes]
rs1400462	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1400463	0.85[EUR][1000 genomes]
rs16901776	0.98[ASN][1000 genomes]
rs16901778	0.96[ASN][1000 genomes]
rs16901783	0.97[ASN][1000 genomes]
rs16901785	0.97[ASN][1000 genomes]
rs16901792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1972123	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1973699	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28409662	0.98[ASN][1000 genomes]
rs28617317	0.96[ASN][1000 genomes]
rs2893579	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870989	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870990	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55814003	0.81[ASN][1000 genomes]
rs6984670	0.91[ASN][1000 genomes]
rs6989445	0.85[EUR][1000 genomes]
rs6998093	0.98[ASN][1000 genomes]
rs7816751	0.98[ASN][1000 genomes]
rs7818682	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818898	0.81[EUR][1000 genomes]
rs7818978	0.81[EUR][1000 genomes]
rs7819209	0.83[EUR][1000 genomes]
rs7825034	0.95[EUR][1000 genomes]
rs7827311	0.92[ASN][1000 genomes]
rs7828801	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833497	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839993	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841842	0.90[ASN][1000 genomes]
rs902126	0.81[EUR][1000 genomes]
rs975788	0.92[ASN][1000 genomes]
rs979963	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs979964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs979965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979966	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986046	0.87[ASN][1000 genomes]
rs9987182	0.85[ASN][1000 genomes]
rs9987223	0.91[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	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831456	chr8:127861583-128025508	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127858000-127866400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:127858600-127869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:127862000-127866200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:127863800-127864400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:127863800-127865000	Enhancers	Rectal Mucosa Donor 31	rectum

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