Variant report

Variant	rs605318
Chromosome Location	chr9:10311000-10311001
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	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10114902	0.93[GIH][hapmap];0.91[MEX][hapmap]
rs10123173	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10511544	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10756023	1.00[CEU][hapmap]
rs10756024	0.94[CEU][hapmap]
rs10756025	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10756027	0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap]
rs10756028	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10809060	0.88[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs10809061	0.88[CEU][hapmap]
rs10959043	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10959045	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12000957	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12000959	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12345848	0.88[CEU][hapmap]
rs1323499	0.87[CEU][hapmap];0.82[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs1924084	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs587791	0.84[ASW][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap]
rs592682	0.94[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.96[LWK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap]
rs597087	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs600075	0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs603924	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs605257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs609528	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs612312	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs617900	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs629243	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs633062	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs635580	1.00[CEU][hapmap];0.81[CHD][hapmap];0.80[TSI][hapmap]
rs635858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs635925	1.00[CEU][hapmap]
rs638180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs647328	0.90[JPT][hapmap]
rs679856	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs680760	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs684853	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs7851619	0.87[AMR][1000 genomes]
rs7854874	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7871892	0.89[CHB][hapmap]
rs942159	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs9657580	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9987444	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9987798	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9987808	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9987891	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034731	chr9:9776126-10481262	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv892295	chr9:9832245-10380406	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1030657	chr9:10002355-10481262	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1033178	chr9:10169848-10428731	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2758179	chr9:10188450-10370398	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2759666	chr9:10188450-10370398	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2762791	chr9:10253852-10325264	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1018748	chr9:10254793-10325252	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1033188	chr9:10255910-10325252	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv892313	chr9:10258040-10311000	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1025315	chr9:10261734-10325252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1016235	chr9:10287340-10322351	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs605318	RPL18A	cis	parietal	SCAN
rs605318	NFIB	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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