Variant report

Variant	rs2224595
Chromosome Location	chr6:86060623-86060624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:86053029..86057129-chr6:86058329..86061439,3	K562	blood:
2	chr6:86056396..86058431-chr6:86059623..86061686,2	MCF-7	breast:
3	chr6:86060401..86063347-chr6:86063548..86065191,2	MCF-7	breast:
4	chr6:86051692..86055053-chr6:86057245..86060918,3	K562	blood:

Extended variants
information (count: 80 )
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	0.82[ASN][1000 genomes]
rs10498953	0.97[ASN][1000 genomes]
rs10498954	0.97[ASN][1000 genomes]
rs11758883	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1322399	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1322400	0.99[ASN][1000 genomes]
rs1322407	0.98[ASN][1000 genomes]
rs1322408	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs1322409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1322410	0.99[ASN][1000 genomes]
rs1407446	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1575309	0.99[ASN][1000 genomes]
rs17216936	0.99[ASN][1000 genomes]
rs17216964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17217290	0.99[ASN][1000 genomes]
rs17217313	0.99[ASN][1000 genomes]
rs17217341	0.99[ASN][1000 genomes]
rs17816793	0.99[ASN][1000 genomes]
rs1853254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2181188	0.99[ASN][1000 genomes]
rs2208726	1.00[ASN][1000 genomes]
rs2208727	0.99[ASN][1000 genomes]
rs2324775	0.97[ASN][1000 genomes]
rs4337908	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs4706233	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[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];0.89[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	0.95[ASN][1000 genomes]
rs57115758	0.99[ASN][1000 genomes]
rs57214768	0.94[ASN][1000 genomes]
rs57393053	0.99[ASN][1000 genomes]
rs57915056	0.99[ASN][1000 genomes]
rs58387111	0.89[ASN][1000 genomes]
rs58873354	0.99[ASN][1000 genomes]
rs59797978	0.99[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	0.97[ASN][1000 genomes]
rs62420143	0.99[ASN][1000 genomes]
rs62420144	0.99[ASN][1000 genomes]
rs62420145	0.99[ASN][1000 genomes]
rs62444622	0.97[ASN][1000 genomes]
rs62444623	0.97[ASN][1000 genomes]
rs62444624	0.97[ASN][1000 genomes]
rs62444625	0.95[ASN][1000 genomes]
rs62444626	0.97[ASN][1000 genomes]
rs62444627	0.97[ASN][1000 genomes]
rs62444629	0.97[ASN][1000 genomes]
rs62444632	0.90[ASN][1000 genomes]
rs6908264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6930866	0.98[ASN][1000 genomes]
rs6938795	0.99[ASN][1000 genomes]
rs7740378	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7744735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7745109	0.94[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];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9450243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9450248	0.94[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:8 , 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
8	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86056000-86064200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:86057000-86061000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:86058200-86070400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:86058600-86071000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:86060600-86065000	Weak transcription	NHDF-Ad	bronchial

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