Variant report

Variant	rs6519805
Chromosome Location	chr22:30525549-30525550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30523289..30525993-chr22:30557345..30559122,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11552852	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1544429	0.89[EUR][1000 genomes]
rs1544430	0.81[EUR][1000 genomes]
rs1544431	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1544433	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988120	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988143	0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988148	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16988149	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988244	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988291	1.00[CEU][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988303	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988304	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17647863	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17648208	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1807726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412980	1.00[CEU][hapmap];0.92[LWK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412981	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36579	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36588	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36589	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36592	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36593	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36597	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36599	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36602	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36603	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36608	0.84[EUR][1000 genomes]
rs39713	0.85[EUR][1000 genomes]
rs41278853	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41281623	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41281633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482600	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4482601	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45629133	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4823078	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55645000	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56392746	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56406718	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57348516	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5752979	0.89[EUR][1000 genomes]
rs5753038	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5753039	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753042	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753043	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763595	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763855	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763856	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763857	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763858	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763870	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763873	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763878	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58162368	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997597	0.85[MEX][hapmap];0.83[TSI][hapmap]
rs6006383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60759987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6518681	0.91[EUR][1000 genomes]
rs6519802	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs713916	0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7284365	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7284951	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7285585	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7286205	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7286441	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7287233	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7290175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs737901	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs737938	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883344	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883349	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73883354	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883355	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883359	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883360	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883363	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883374	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883377	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883378	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8141471	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962322	0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30523400-30526000	Enhancers	Osteobl	bone
2	chr22:30524600-30528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:30525400-30525600	Enhancers	A549	lung

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