Variant report

Variant	rs2049815
Chromosome Location	chr8:91142473-91142474
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91142074..91143853-chr8:91145432..91147703,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10088137	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10088826	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10092098	0.85[CEU][hapmap]
rs10093716	0.87[EUR][1000 genomes]
rs10095826	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10100369	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs10100993	0.82[EUR][1000 genomes]
rs10104321	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs10107297	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109405	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10109454	0.80[MEX][hapmap]
rs10113507	0.86[EUR][1000 genomes]
rs10216559	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1073074	0.83[EUR][1000 genomes]
rs11782032	0.90[CEU][hapmap]
rs11993791	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12171665	0.81[CEU][hapmap]
rs12549107	0.85[CEU][hapmap]
rs12679577	0.85[CEU][hapmap]
rs1554927	0.88[EUR][1000 genomes]
rs1800645	0.85[CEU][hapmap]
rs1805793	0.80[MEX][hapmap]
rs1805796	0.80[MEX][hapmap]
rs1805801	0.80[MEX][hapmap]
rs1805870	0.90[CEU][hapmap];0.86[TSI][hapmap]
rs1805871	0.86[CEU][hapmap]
rs1805874	0.91[CEU][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs1805876	0.85[CEU][hapmap]
rs1805877	0.80[CEU][hapmap];0.86[TSI][hapmap]
rs2023848	0.86[JPT][hapmap]
rs2049816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063976	0.80[EUR][1000 genomes]
rs2091887	0.85[CEU][hapmap]
rs2103432	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2178830	0.82[EUR][1000 genomes]
rs2189261	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2205108	0.91[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs2840205	0.81[EUR][1000 genomes]
rs3087750	0.81[EUR][1000 genomes]
rs34915823	0.81[EUR][1000 genomes]
rs35044745	0.82[EUR][1000 genomes]
rs3758146	0.86[CEU][hapmap]
rs4961166	0.81[CEU][hapmap]
rs4961170	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4961171	0.81[EUR][1000 genomes]
rs6470668	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs6470671	0.85[CEU][hapmap]
rs6470713	0.85[CEU][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6470747	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6470748	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470752	0.87[EUR][1000 genomes]
rs6470756	0.85[EUR][1000 genomes]
rs6988013	0.81[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs6994202	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs6994668	0.88[EUR][1000 genomes]
rs7010368	0.81[EUR][1000 genomes]
rs7011734	0.81[EUR][1000 genomes]
rs709816	0.80[MEX][hapmap]
rs7459577	0.85[CEU][hapmap]
rs7461859	0.85[CEU][hapmap]
rs7463278	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7463923	0.81[EUR][1000 genomes]
rs7815279	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs7816237	0.86[JPT][hapmap]
rs7821408	0.85[CEU][hapmap]
rs7831184	0.88[EUR][1000 genomes]
rs867185	0.80[MEX][hapmap]
rs9297784	0.84[EUR][1000 genomes]
rs978953	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs988851	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34347	chr8:91101339-91179126	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv470225	chr8:91113616-91229254	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv891184	chr8:91114698-91222654	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2049815	DECR1	cis	cerebellum	SCAN
rs2049815	NBN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91141600-91150400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links