Variant report

Variant	rs6453597
Chromosome Location	chr6:73412888-73412889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16882712	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16882715	0.80[MKK][hapmap];0.87[YRI][hapmap];0.82[EUR][1000 genomes]
rs17692055	0.89[EUR][1000 genomes]
rs17748888	0.93[EUR][1000 genomes]
rs17748966	0.93[EUR][1000 genomes]
rs55791694	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56307817	0.82[EUR][1000 genomes]
rs56379143	0.82[EUR][1000 genomes]
rs56897294	0.93[EUR][1000 genomes]
rs57822223	0.93[EUR][1000 genomes]
rs58412450	0.82[EUR][1000 genomes]
rs58599475	0.93[EUR][1000 genomes]
rs58816739	0.89[EUR][1000 genomes]
rs60412240	0.93[EUR][1000 genomes]
rs60620751	0.91[EUR][1000 genomes]
rs62411982	0.80[EUR][1000 genomes]
rs6918661	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6934995	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6938189	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs73531872	0.89[EUR][1000 genomes]
rs73533641	0.89[EUR][1000 genomes]
rs73533649	0.93[EUR][1000 genomes]
rs73533670	0.93[EUR][1000 genomes]
rs73533685	0.93[EUR][1000 genomes]
rs73535764	0.93[EUR][1000 genomes]
rs73535765	0.93[EUR][1000 genomes]
rs73535768	0.93[EUR][1000 genomes]
rs73535770	0.91[EUR][1000 genomes]
rs73535771	0.91[EUR][1000 genomes]
rs73535789	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73537767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537770	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73537781	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73756018	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs768790	1.00[MEX][hapmap]
rs7758797	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1794408	chr6:73363298-73419987	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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
6	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73382800-73414200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73392400-73429800	Weak transcription	HSMM	muscle
3	chr6:73399400-73419200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73399400-73429200	Weak transcription	Aorta	Aorta
5	chr6:73399400-73438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73412000-73413200	Enhancers	K562	blood
7	chr6:73412200-73413200	Enhancers	Fetal Heart	heart
8	chr6:73412200-73413600	Strong transcription	Primary B cells from cord blood	blood
9	chr6:73412400-73413000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:73412400-73413200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:73412600-73413000	Enhancers	GM12878-XiMat	blood
12	chr6:73412800-73413000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:73412800-73413000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:73412800-73413200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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