Variant report

Variant	rs7870315
Chromosome Location	chr9:15660117-15660118
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10119257	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10119980	1.00[EUR][1000 genomes]
rs10121391	0.94[EUR][1000 genomes]
rs10217374	0.91[EUR][1000 genomes]
rs1039812	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1039816	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1041529	0.83[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs10429512	0.83[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs10733296	0.87[EUR][1000 genomes]
rs10738407	0.91[EUR][1000 genomes]
rs10756706	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10810445	0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10962061	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12350267	0.87[EUR][1000 genomes]
rs1355172	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1417975	0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1472941	1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1509311	1.00[EUR][1000 genomes]
rs1553727	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs175762	0.81[EUR][1000 genomes]
rs1848583	1.00[EUR][1000 genomes]
rs202321	0.94[EUR][1000 genomes]
rs2055773	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2055774	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2064030	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs2089618	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2096119	1.00[CEU][hapmap]
rs2136354	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2175083	0.87[EUR][1000 genomes]
rs2221706	0.97[EUR][1000 genomes]
rs2382531	0.94[EUR][1000 genomes]
rs2382533	0.91[EUR][1000 genomes]
rs2382535	0.91[EUR][1000 genomes]
rs2382536	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2665503	0.83[GIH][hapmap]
rs276434	1.00[CEU][hapmap];0.83[GIH][hapmap]
rs276437	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs276438	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs276439	0.81[EUR][1000 genomes]
rs276440	0.94[EUR][1000 genomes]
rs276442	0.94[EUR][1000 genomes]
rs276445	0.81[EUR][1000 genomes]
rs276446	0.81[EUR][1000 genomes]
rs276450	1.00[CEU][hapmap]
rs2795128	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs3119700	1.00[CEU][hapmap]
rs3122701	0.87[EUR][1000 genomes]
rs3122705	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs381205	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs398117	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs398178	0.94[EUR][1000 genomes]
rs401393	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs413356	0.85[EUR][1000 genomes]
rs4146289	0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs418153	0.81[EUR][1000 genomes]
rs4237140	1.00[EUR][1000 genomes]
rs443563	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4445326	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4740623	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4741532	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4741533	0.94[EUR][1000 genomes]
rs4741536	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4741537	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs6474941	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6474943	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6474947	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6474949	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs6474956	0.85[EUR][1000 genomes]
rs6474957	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6474973	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs6474977	0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7035422	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7037893	0.94[EUR][1000 genomes]
rs7038920	0.91[EUR][1000 genomes]
rs741930	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs7468716	0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7847148	0.97[EUR][1000 genomes]
rs7849159	0.87[EUR][1000 genomes]
rs7860339	0.86[ASW][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs7865193	0.85[EUR][1000 genomes]
rs796391	1.00[CEU][hapmap]
rs811282	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9298734	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs955193	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9919009	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3407839	chr9:15530438-15665653	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv892630	chr9:15554960-15694690	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2752286	chr9:15578017-15794897	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv613652	chr9:15579744-15661859	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv613653	chr9:15590116-15668606	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv892631	chr9:15590116-15694690	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv892632	chr9:15590116-15869845	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv613655	chr9:15602101-15670445	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv892633	chr9:15604746-15889411	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv613656	chr9:15615321-15696501	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv466262	chr9:15615321-15727518	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv613657	chr9:15615321-15727518	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv613658	chr9:15636260-15727518	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv466263	chr9:15641279-15726057	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv613659	chr9:15641279-15726057	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7870315	C9orf93	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15645600-15689200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:15651400-15660400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:15652200-15666200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:15655200-15691600	Weak transcription	Thymus	Thymus
5	chr9:15658200-15660800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:15659200-15660800	Weak transcription	Brain Anterior Caudate	brain

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