Variant report

Variant	rs6698048
Chromosome Location	chr1:186625638-186625639
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	chr1:186624406..186626513-chr1:186632054..186634321,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10911898	0.91[AFR][1000 genomes]
rs10911900	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911903	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10911907	0.93[ASN][1000 genomes]
rs10911908	0.93[ASN][1000 genomes]
rs10911909	0.84[ASN][1000 genomes]
rs10911910	0.93[ASN][1000 genomes]
rs10911911	0.93[ASN][1000 genomes]
rs1119066	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1119230	0.93[ASN][1000 genomes]
rs1119231	0.93[ASN][1000 genomes]
rs11583191	0.93[ASN][1000 genomes]
rs11584118	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12064238	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084433	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089049	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12401885	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12402603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12403185	0.84[EUR][1000 genomes]
rs12405141	0.84[EUR][1000 genomes]
rs12405541	0.84[ASN][1000 genomes]
rs12405919	0.84[EUR][1000 genomes]
rs12409744	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474596	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16825675	0.92[AFR][1000 genomes]
rs20417	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs20432	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066826	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2143416	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143417	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179555	0.93[ASN][1000 genomes]
rs2383515	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383516	0.84[ASN][1000 genomes]
rs2383529	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4422959	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648250	0.80[ASN][1000 genomes]
rs4648276	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4648306	0.84[ASN][1000 genomes]
rs4648308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5275	0.82[AFR][1000 genomes]
rs61532952	0.84[ASN][1000 genomes]
rs6425038	0.93[AFR][1000 genomes]
rs66494422	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6665419	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6666199	0.93[ASN][1000 genomes]
rs6685280	1.00[ASN][1000 genomes]
rs67804662	0.84[ASN][1000 genomes]
rs67816471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68096880	0.84[ASN][1000 genomes]
rs689465	0.93[ASN][1000 genomes]
rs72721568	0.93[ASN][1000 genomes]
rs7539054	0.94[AFR][1000 genomes]
rs964571	0.84[ASN][1000 genomes]
rs9783017	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9783052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186620200-186626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:186621800-186630400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:186625000-186628200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:186625200-186626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:186625400-186628000	Weak transcription	HUVEC	blood vessel
6	chr1:186625400-186630400	Enhancers	Primary neutrophils fromperipheralblood	blood

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