Variant report

Variant	rs9450243
Chromosome Location	chr6:86051876-86051877
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86051692..86055053-chr6:86057245..86060918,3	K562	blood:
2	chr6:86051150..86053674-chr6:86063762..86066371,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1026064	0.98[ASN][1000 genomes]
rs1028637	0.99[ASN][1000 genomes]
rs1028638	0.80[ASN][1000 genomes]
rs10498953	0.94[ASN][1000 genomes]
rs10498954	0.94[ASN][1000 genomes]
rs11758883	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1322399	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1322400	0.99[ASN][1000 genomes]
rs1322407	0.96[ASN][1000 genomes]
rs1322408	0.96[ASN][1000 genomes]
rs1322409	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1322410	0.97[ASN][1000 genomes]
rs1407446	0.99[ASN][1000 genomes]
rs1575309	0.99[ASN][1000 genomes]
rs17216936	0.99[ASN][1000 genomes]
rs17216964	0.99[ASN][1000 genomes]
rs17217290	0.99[ASN][1000 genomes]
rs17217313	0.97[ASN][1000 genomes]
rs17217341	0.97[ASN][1000 genomes]
rs17816793	0.99[ASN][1000 genomes]
rs1853254	0.99[ASN][1000 genomes]
rs2181188	0.99[ASN][1000 genomes]
rs2208726	0.98[ASN][1000 genomes]
rs2208727	0.99[ASN][1000 genomes]
rs2224595	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324775	0.94[ASN][1000 genomes]
rs4337908	0.96[ASN][1000 genomes]
rs4706233	0.97[ASN][1000 genomes]
rs4707192	0.99[ASN][1000 genomes]
rs4707193	0.99[ASN][1000 genomes]
rs4707194	0.84[AMR][1000 genomes]
rs4707196	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5019880	0.99[ASN][1000 genomes]
rs5019881	0.99[ASN][1000 genomes]
rs5019882	0.99[ASN][1000 genomes]
rs5019883	0.99[ASN][1000 genomes]
rs5019884	0.99[ASN][1000 genomes]
rs56679761	0.96[ASN][1000 genomes]
rs57115758	0.99[ASN][1000 genomes]
rs57214768	0.92[ASN][1000 genomes]
rs57393053	0.97[ASN][1000 genomes]
rs57915056	0.99[ASN][1000 genomes]
rs58387111	0.87[ASN][1000 genomes]
rs58873354	0.99[ASN][1000 genomes]
rs59797978	0.97[ASN][1000 genomes]
rs60034184	0.99[ASN][1000 genomes]
rs60308797	0.99[ASN][1000 genomes]
rs60968245	0.97[ASN][1000 genomes]
rs61200746	0.97[ASN][1000 genomes]
rs61536412	0.94[ASN][1000 genomes]
rs62420143	0.99[ASN][1000 genomes]
rs62420144	0.99[ASN][1000 genomes]
rs62420145	0.99[ASN][1000 genomes]
rs62444622	0.94[ASN][1000 genomes]
rs62444623	0.94[ASN][1000 genomes]
rs62444624	0.94[ASN][1000 genomes]
rs62444625	0.93[ASN][1000 genomes]
rs62444626	0.94[ASN][1000 genomes]
rs62444627	0.94[ASN][1000 genomes]
rs62444629	0.94[ASN][1000 genomes]
rs62444632	0.88[ASN][1000 genomes]
rs6908264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6930866	0.96[ASN][1000 genomes]
rs6938795	0.99[ASN][1000 genomes]
rs7740378	0.97[ASN][1000 genomes]
rs7744735	0.97[ASN][1000 genomes]
rs7745109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450248	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs950030	0.98[ASN][1000 genomes]
rs969918	0.97[ASN][1000 genomes]
rs970568	0.99[ASN][1000 genomes]
rs970569	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv830721	chr6:85987644-86147414	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1019960	chr6:86023236-86136666	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86050200-86054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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