Variant report

Variant	rs2184068
Chromosome Location	chr1:160843080-160843081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10908807	0.94[ASN][1000 genomes]
rs10908808	0.83[EUR][1000 genomes]
rs11265498	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs11265500	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs11265501	0.93[ASN][1000 genomes]
rs11265504	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578752	0.89[EUR][1000 genomes]
rs11587040	0.89[MEX][hapmap]
rs12035295	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs12036607	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12036670	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12037395	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12038419	0.94[ASW][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12038600	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs12039896	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs12039959	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs12040152	0.90[CHB][hapmap]
rs12040750	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12041508	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12048113	0.86[CHB][hapmap]
rs12409609	0.83[EUR][1000 genomes]
rs12566557	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1333062	0.84[EUR][1000 genomes]
rs1412849	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17387157	0.83[EUR][1000 genomes]
rs1855186	0.84[MEX][hapmap]
rs1855188	0.86[CHB][hapmap]
rs2039415	0.87[CEU][hapmap];0.90[GIH][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes]
rs2151293	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2184067	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2184069	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236515	0.92[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2274905	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2274907	0.92[CEU][hapmap];0.80[CHD][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2274908	0.92[CEU][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs2274909	0.83[EUR][1000 genomes]
rs2274910	0.92[CEU][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2297559	0.82[AMR][1000 genomes]
rs3766356	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs3766357	0.83[EUR][1000 genomes]
rs3766359	0.83[EUR][1000 genomes]
rs3766378	0.86[CHB][hapmap]
rs3820094	0.92[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4017448	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4017458	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4017459	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4017460	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656940	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs4656943	0.94[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4656944	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656945	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656948	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656949	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656950	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656951	0.90[EUR][1000 genomes]
rs4656953	0.84[EUR][1000 genomes]
rs4656955	0.83[EUR][1000 genomes]
rs4656956	0.92[CEU][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4656957	0.83[ASW][hapmap];0.92[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4656958	0.87[CEU][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes]
rs6427550	0.83[EUR][1000 genomes]
rs6427551	0.83[EUR][1000 genomes]
rs6427552	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6676174	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6685693	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699162	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699166	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700146	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6703406	0.82[EUR][1000 genomes]
rs7410867	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7411035	0.87[CEU][hapmap];0.84[MEX][hapmap]
rs7412693	0.80[CHB][hapmap]
rs7414728	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7419088	0.90[CHB][hapmap]
rs7419110	0.90[CHB][hapmap]
rs7419145	0.86[CHB][hapmap]
rs7516660	0.89[MEX][hapmap]
rs7524351	0.83[EUR][1000 genomes]
rs7532133	0.83[EUR][1000 genomes]
rs869167	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869168	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs914793	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952804	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs955370	0.93[ASN][1000 genomes]
rs955371	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs959047	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2184068	NDUFS2	cis	cerebellum	SCAN
rs2184068	SMG5	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160832600-160847400	Weak transcription	Spleen	Spleen
2	chr1:160834600-160849000	Weak transcription	Ovary	ovary
3	chr1:160835400-160846400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:160836200-160844600	Weak transcription	A549	lung
5	chr1:160836400-160844600	Weak transcription	Pancreas	Pancrea
6	chr1:160839400-160846000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:160839600-160844600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:160840000-160844400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:160840400-160845400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:160840800-160846600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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