Variant report

Variant	rs11942645
Chromosome Location	chr4:173700049-173700050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10000589	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024969	0.82[JPT][hapmap]
rs10025150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10025544	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10029787	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10034980	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10520242	0.82[JPT][hapmap]
rs10866356	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs10866357	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10866358	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10866359	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10866361	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10866362	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10866363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866364	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10866365	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11132955	0.81[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap]
rs11132964	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132967	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132968	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132969	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11132970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158684	0.82[MEX][hapmap]
rs11722378	0.88[EUR][1000 genomes]
rs11725400	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11932974	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs11938551	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11939302	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501554	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502339	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509744	0.88[EUR][1000 genomes]
rs12511707	0.82[JPT][hapmap]
rs12511715	0.82[CHD][hapmap]
rs12513314	0.81[JPT][hapmap]
rs12642442	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12643395	0.82[JPT][hapmap]
rs12643742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645440	0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12646897	1.00[JPT][hapmap]
rs12647340	0.82[MEX][hapmap]
rs12649426	0.82[MEX][hapmap]
rs12651320	0.82[JPT][hapmap]
rs13107045	0.87[EUR][1000 genomes]
rs13134194	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13144747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347698	0.82[JPT][hapmap]
rs1347700	0.82[MEX][hapmap]
rs1347702	0.82[JPT][hapmap]
rs1347705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347706	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370581	0.88[EUR][1000 genomes]
rs1437842	0.82[MEX][hapmap]
rs1437845	0.81[GIH][hapmap]
rs1540468	0.82[JPT][hapmap]
rs1540470	0.82[MEX][hapmap]
rs1540472	0.82[JPT][hapmap]
rs1548346	0.89[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1548347	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17058683	0.82[JPT][hapmap]
rs17058752	0.82[JPT][hapmap]
rs17058876	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17058878	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058886	1.00[JPT][hapmap]
rs1946797	0.82[JPT][hapmap]
rs2043782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2043783	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2083133	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083134	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118442	0.87[EUR][1000 genomes]
rs28436909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28550329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34464405	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34567973	0.88[EUR][1000 genomes]
rs34807167	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35184155	0.87[EUR][1000 genomes]
rs35280724	0.88[EUR][1000 genomes]
rs35345168	0.87[EUR][1000 genomes]
rs4420960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4422401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4431209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4449390	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4470604	0.85[CEU][hapmap]
rs4546224	0.88[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4608790	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs4695771	0.82[MEX][hapmap]
rs4695799	0.84[CEU][hapmap]
rs4695817	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4695932	0.81[JPT][hapmap]
rs4696006	0.84[CEU][hapmap]
rs4696014	0.82[JPT][hapmap]
rs4696015	0.88[EUR][1000 genomes]
rs4696016	0.88[EUR][1000 genomes]
rs4696022	0.89[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4696028	0.89[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56069434	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59569156	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6553645	0.87[EUR][1000 genomes]
rs6553657	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs6553658	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67786990	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817631	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]
rs6819441	0.87[EUR][1000 genomes]
rs6819460	0.94[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827154	0.87[JPT][hapmap]
rs6842382	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6842805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6855645	0.82[MEX][hapmap]
rs7376615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7378115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7435993	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7438724	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7659511	0.82[MEX][hapmap]
rs7661180	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs7672787	0.88[EUR][1000 genomes]
rs7677835	0.81[GIH][hapmap]
rs7679802	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681189	0.89[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7685030	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685421	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7688630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7689021	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs7691448	0.88[EUR][1000 genomes]
rs837196	0.82[JPT][hapmap]
rs9312534	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]
rs9992822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997085	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]

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	nsv948856	chr4:173388217-173967546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv949126	chr4:173466221-174051451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3327952	chr4:173591786-173805861	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11942645	C4orf27	cis	parietal	SCAN
rs11942645	GPM6A	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173697200-173707000	Weak transcription	Fetal Kidney	kidney
2	chr4:173698800-173707000	Weak transcription	Hela-S3	cervix
3	chr4:173699400-173702800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:173699600-173700400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr4:173699600-173700600	Enhancers	Primary neutrophils fromperipheralblood	blood

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