Variant report

Variant	rs6685280
Chromosome Location	chr1:186685818-186685819
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10911886	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs10911900	0.93[ASN][1000 genomes]
rs10911901	1.00[ASN][1000 genomes]
rs10911903	0.84[ASN][1000 genomes]
rs10911904	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap]
rs10911905	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap]
rs10911907	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10911908	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10911909	0.84[ASN][1000 genomes]
rs10911910	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10911911	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1119066	1.00[ASN][1000 genomes]
rs1119230	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1119231	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11583191	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11584118	0.84[ASN][1000 genomes]
rs12057695	1.00[CHB][hapmap]
rs12064238	1.00[ASN][1000 genomes]
rs12076624	1.00[ASN][1000 genomes]
rs12081510	1.00[CHB][hapmap]
rs12084433	1.00[ASN][1000 genomes]
rs12089049	0.84[ASN][1000 genomes]
rs12401885	0.93[ASN][1000 genomes]
rs12402603	0.93[ASN][1000 genomes]
rs12405541	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12409744	1.00[ASN][1000 genomes]
rs1474596	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs20417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs20432	1.00[ASN][1000 genomes]
rs2066826	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs2143416	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs2143417	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs2179555	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2383515	1.00[ASN][1000 genomes]
rs2383516	0.84[ASN][1000 genomes]
rs2383529	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891247	1.00[CHB][hapmap]
rs4422959	1.00[ASN][1000 genomes]
rs4648250	0.82[CHB][hapmap];1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs4648276	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4648306	0.84[ASN][1000 genomes]
rs4648308	1.00[ASN][1000 genomes]
rs61532952	0.84[ASN][1000 genomes]
rs66494422	0.84[ASN][1000 genomes]
rs6665419	0.93[ASN][1000 genomes]
rs6666199	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6698048	1.00[ASN][1000 genomes]
rs67804662	0.84[ASN][1000 genomes]
rs67816471	0.93[ASN][1000 genomes]
rs68096880	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs689465	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72721568	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7512750	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs7533973	0.83[AMR][1000 genomes]
rs964571	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9783017	0.84[ASN][1000 genomes]
rs9783052	1.00[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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv470750	chr1:186642429-186700959	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv548403	chr1:186642429-186700959	Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466261	chr1:186652395-186742947	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv548405	chr1:186652395-186742947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186681400-186686400	Weak transcription	HUVEC	blood vessel
2	chr1:186684400-186686800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186685400-186686000	Flanking Active TSS	Hela-S3	cervix
4	chr1:186685600-186686000	Flanking Active TSS	A549	lung

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