Variant report

Variant	rs383585
Chromosome Location	chr5:118145137-118145138
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10447237	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10447238	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447266	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241476	1.00[ASN][1000 genomes]
rs11959589	1.00[JPT][hapmap]
rs12109252	1.00[JPT][hapmap]
rs12187606	0.82[ASW][hapmap];1.00[CHB][hapmap];0.88[LWK][hapmap];0.80[TSI][hapmap];0.88[YRI][hapmap]
rs12659444	0.83[ASW][hapmap];0.95[CEU][hapmap];0.85[GIH][hapmap];0.85[LWK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13166967	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1448479	1.00[JPT][hapmap]
rs1567521	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17132673	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144552	1.00[JPT][hapmap]
rs17144708	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17144714	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17144715	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17144716	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[LWK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17144806	1.00[CHB][hapmap]
rs17381247	1.00[JPT][hapmap]
rs17440213	1.00[JPT][hapmap]
rs1864109	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2029036	1.00[JPT][hapmap]
rs2081957	1.00[ASN][1000 genomes]
rs2084460	1.00[JPT][hapmap]
rs2099092	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115301	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115302	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162888	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370827	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3813297	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813298	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386288	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400967	0.93[EUR][1000 genomes]
rs406335	1.00[ASN][1000 genomes]
rs447317	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4895183	1.00[CHB][hapmap]
rs4895184	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4895347	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895353	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895354	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55821851	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55876313	1.00[ASN][1000 genomes]
rs581887	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635083	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6861907	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6862297	1.00[JPT][hapmap]
rs6871241	0.83[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6874109	1.00[CHB][hapmap]
rs6881583	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881776	0.95[EUR][1000 genomes]
rs6886240	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73234489	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234502	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236920	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709381	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7710339	1.00[JPT][hapmap]
rs7722027	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7724403	1.00[JPT][hapmap]
rs7724753	1.00[JPT][hapmap]
rs7726905	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs849728	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs383585	DTWD2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118138000-118146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118142800-118145600	Weak transcription	Aorta	Aorta
4	chr5:118143400-118178200	Weak transcription	Left Ventricle	heart
5	chr5:118144400-118145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:118144800-118149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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