Variant report

Variant	rs6470708
Chromosome Location	chr8:91127680-91127681
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	chr8:91126270..91128899-chr8:91135979..91138410,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10092098	0.80[EUR][1000 genomes]
rs10095826	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10100369	0.83[EUR][1000 genomes]
rs10104321	0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs10109405	0.81[EUR][1000 genomes]
rs10113507	0.81[EUR][1000 genomes]
rs1011683	0.81[CEU][hapmap];0.84[CHD][hapmap];0.84[MEX][hapmap]
rs12171665	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547667	0.82[EUR][1000 genomes]
rs12549107	0.80[EUR][1000 genomes]
rs13277204	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1554927	0.83[EUR][1000 genomes]
rs1800645	0.80[EUR][1000 genomes]
rs1805808	0.81[CEU][hapmap];0.84[CHD][hapmap];0.88[MEX][hapmap]
rs1805870	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs1805874	0.84[TSI][hapmap]
rs1805876	0.80[EUR][1000 genomes]
rs1805877	0.81[TSI][hapmap]
rs2073635	0.80[CEU][hapmap]
rs2091888	0.84[EUR][1000 genomes]
rs2091900	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2097825	0.81[CEU][hapmap]
rs2103432	0.81[EUR][1000 genomes]
rs2142093	0.86[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2142094	0.86[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2205108	0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs28380191	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3758146	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4961166	0.81[CEU][hapmap]
rs6470668	0.81[TSI][hapmap]
rs6470671	0.80[EUR][1000 genomes]
rs6470709	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470713	0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs6988013	0.82[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs6993054	0.86[CEU][hapmap]
rs6994202	0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs6994668	0.83[EUR][1000 genomes]
rs7459441	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7459577	0.80[EUR][1000 genomes]
rs7459845	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7459846	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7460025	0.83[EUR][1000 genomes]
rs7461859	0.80[EUR][1000 genomes]
rs7463278	0.84[EUR][1000 genomes]
rs7463923	0.84[EUR][1000 genomes]
rs7465539	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815279	0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs7821408	0.80[EUR][1000 genomes]
rs7822272	0.81[CEU][hapmap]
rs7831184	0.83[EUR][1000 genomes]
rs9297784	0.86[EUR][1000 genomes]
rs9774207	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs988934	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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
rs6470708	DECR1	cis	cerebellum	SCAN
rs6470708	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 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	chr8:91124600-91128000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:91124800-91128200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:91127200-91130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:91127600-91128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:91127600-91128000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:91127600-91128400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:91127600-91128800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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