Variant report

Variant	rs993314
Chromosome Location	chr6:73438572-73438573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10805964	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs10943042	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs10943044	0.86[JPT][hapmap]
rs12111265	0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs12175038	0.86[JPT][hapmap]
rs12523691	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs1543621	0.86[JPT][hapmap]
rs16882711	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs17692121	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs1884090	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1997914	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207265	0.85[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2207266	0.94[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];0.99[ASN][1000 genomes]
rs2207267	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];0.99[ASN][1000 genomes]
rs2223939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4706511	1.00[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4707978	0.83[JPT][hapmap]
rs4707980	0.81[CHB][hapmap]
rs4707981	0.81[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs4707983	0.81[CHB][hapmap]
rs4707984	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4707985	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6453598	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];0.99[ASN][1000 genomes]
rs6453599	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6453600	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];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66811027	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6900100	0.86[JPT][hapmap]
rs6906977	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6910780	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6913237	0.86[JPT][hapmap]
rs6915647	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs6917707	0.83[JPT][hapmap]
rs6922044	0.86[CHD][hapmap];0.83[JPT][hapmap]
rs6922327	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6922479	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6922837	0.87[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6923028	0.86[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6926943	0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap]
rs6931363	0.86[JPT][hapmap]
rs6937158	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs6937341	0.86[JPT][hapmap]
rs7451091	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7738588	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7738589	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7749079	0.82[JPT][hapmap]
rs7754096	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7760979	0.81[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap]
rs7768117	0.82[JPT][hapmap]
rs7772481	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7772714	0.81[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs7772876	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7776102	0.83[JPT][hapmap]
rs867521	0.86[JPT][hapmap]
rs9293896	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9293897	0.83[ASN][1000 genomes]
rs9293898	0.83[JPT][hapmap]
rs9293899	0.81[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9293900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9293901	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9293902	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9293904	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9293905	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9293906	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9341386	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];0.99[ASN][1000 genomes]
rs9342961	0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs9342962	0.86[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs9342967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9342968	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9351938	0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9360571	0.81[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap]
rs9360572	0.86[JPT][hapmap]
rs9360580	0.89[JPT][hapmap]
rs9360584	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9360587	0.83[JPT][hapmap]
rs9360588	0.81[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs9360593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9360594	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9442830	0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs9442831	0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs9442834	0.84[CHD][hapmap];0.83[JPT][hapmap]
rs9442835	0.81[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs9442836	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs9442837	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[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];0.97[ASN][1000 genomes]
rs9446734	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs9446739	0.81[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9446740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73437400-73438600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:73437800-73441800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:73437800-73455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:73438200-73438600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:73438400-73438600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:73438400-73455400	Weak transcription	HMEC	breast

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