Variant report

Variant	rs2793623
Chromosome Location	chr1:57972352-57972353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57972252..57973978-chr1:58083473..58085053,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10493226	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10493227	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs10493229	0.90[AFR][1000 genomes]
rs11207047	0.89[YRI][hapmap]
rs11207048	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs11207049	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11207050	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11207051	0.92[AFR][1000 genomes]
rs11207053	0.84[AFR][1000 genomes]
rs11803909	0.89[YRI][hapmap]
rs11804717	0.91[AFR][1000 genomes]
rs11805586	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs11810273	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs12063470	0.92[AFR][1000 genomes]
rs12063594	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12065019	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs12067444	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs12067490	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs12073810	0.92[AFR][1000 genomes]
rs12073879	0.89[YRI][hapmap]
rs1972381	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2691428	1.00[CHB][hapmap]
rs2691430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2691431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2691433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2691434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2691435	1.00[CHB][hapmap]
rs2691436	1.00[CHB][hapmap]
rs2691438	1.00[CHB][hapmap]
rs2691452	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2691453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2691467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2691468	1.00[CHB][hapmap]
rs2793621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2793642	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793644	0.86[YRI][hapmap]
rs2793645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2793646	1.00[CHB][hapmap]
rs2793647	1.00[CHB][hapmap]
rs2805877	1.00[CHB][hapmap]
rs2805880	1.00[CHB][hapmap]
rs2805881	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2805882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4310463	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs4348747	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs4526638	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs4529731	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs4553222	0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs56721199	0.90[AFR][1000 genomes]
rs56873272	0.90[AFR][1000 genomes]
rs58873103	0.90[AFR][1000 genomes]
rs59078890	0.91[AFR][1000 genomes]
rs6681889	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs6694496	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs6700225	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs947243	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs947244	0.92[AFR][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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870802	chr1:57965114-58037031	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57955200-57972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57971400-57974800	Weak transcription	Fetal Brain Female	brain
3	chr1:57971800-57972400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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