Variant report

Variant	rs988934
Chromosome Location	chr8:91124641-91124642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91124236..91126354-chr8:91127708..91130462,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10088137	0.81[CEU][hapmap]
rs10092098	0.86[CEU][hapmap]
rs10095826	0.87[CEU][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs10100369	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs10104321	0.85[CEU][hapmap]
rs10109405	0.80[EUR][1000 genomes]
rs10113507	0.80[EUR][1000 genomes]
rs1011682	0.86[CEU][hapmap]
rs1011683	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs1061302	0.86[CEU][hapmap]
rs1063045	0.86[CEU][hapmap]
rs10956375	0.86[CEU][hapmap]
rs11782032	0.86[CEU][hapmap]
rs12171665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12547667	0.82[EUR][1000 genomes]
rs12549107	0.86[CEU][hapmap]
rs12679577	0.86[CEU][hapmap]
rs13275276	0.86[CEU][hapmap]
rs13277204	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13278453	0.86[CEU][hapmap]
rs13312935	0.86[CEU][hapmap]
rs1554927	0.83[EUR][1000 genomes]
rs1800645	0.86[CEU][hapmap]
rs1805790	0.86[CEU][hapmap]
rs1805794	0.86[CEU][hapmap]
rs1805795	0.86[CEU][hapmap]
rs1805797	0.86[CEU][hapmap]
rs1805799	0.86[CEU][hapmap]
rs1805800	0.86[CEU][hapmap]
rs1805808	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs1805818	0.86[CEU][hapmap]
rs1805844	0.86[CEU][hapmap]
rs1805870	0.90[CEU][hapmap]
rs1805871	0.87[CEU][hapmap]
rs1805874	0.81[CEU][hapmap]
rs1805876	0.86[CEU][hapmap]
rs1805877	0.80[CEU][hapmap]
rs2073635	0.85[CEU][hapmap]
rs2091887	0.86[CEU][hapmap]
rs2091888	0.83[EUR][1000 genomes]
rs2091900	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2097825	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs2103432	0.80[EUR][1000 genomes]
rs2142093	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2142094	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2205108	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs2234744	0.86[CEU][hapmap]
rs2280780	0.86[CEU][hapmap]
rs2308962	0.86[CEU][hapmap]
rs2339025	0.86[CEU][hapmap]
rs28380191	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736639	0.86[CEU][hapmap]
rs3758146	0.87[CEU][hapmap];0.89[YRI][hapmap]
rs4961166	0.90[CEU][hapmap]
rs6470523	0.86[CEU][hapmap]
rs6470524	0.86[CEU][hapmap]
rs6470668	0.85[CEU][hapmap]
rs6470671	0.86[CEU][hapmap]
rs6470708	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470709	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470713	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs6985793	0.81[CEU][hapmap]
rs6987873	0.86[CEU][hapmap]
rs6988013	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs6990969	0.86[CEU][hapmap]
rs6991811	0.86[CEU][hapmap]
rs6993054	0.95[CEU][hapmap];0.83[CHB][hapmap]
rs6994202	0.85[CEU][hapmap]
rs6994668	0.82[EUR][1000 genomes]
rs7006322	0.86[CEU][hapmap]
rs7011299	0.86[CEU][hapmap]
rs7018118	0.86[CEU][hapmap]
rs741777	0.86[CEU][hapmap]
rs7459441	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7459577	0.86[CEU][hapmap]
rs7459845	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7459846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7460025	0.82[EUR][1000 genomes]
rs7461859	0.86[CEU][hapmap]
rs7463278	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs7463923	0.83[EUR][1000 genomes]
rs7465539	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815279	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7821408	0.86[CEU][hapmap]
rs7822272	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs7829246	0.86[CEU][hapmap]
rs7831184	0.83[EUR][1000 genomes]
rs926092	0.86[CEU][hapmap]
rs9297784	0.86[EUR][1000 genomes]
rs9774207	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9792335	0.86[CEU][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs988934	NBN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91122600-91128200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:91124200-91126800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:91124400-91127400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:91124600-91124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:91124600-91125000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr8:91124600-91127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:91124600-91128000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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