Variant report

Variant	rs1113984
Chromosome Location	chr10:91661559-91661560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10785919	0.83[EUR][1000 genomes]
rs10785927	1.00[ASN][1000 genomes]
rs10785930	1.00[ASN][1000 genomes]
rs10881718	1.00[ASN][1000 genomes]
rs1111716	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185944	1.00[ASN][1000 genomes]
rs1274129	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274131	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274132	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274135	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274137	1.00[ASN][1000 genomes]
rs1274139	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274140	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274141	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274142	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274172	1.00[ASN][1000 genomes]
rs1274174	1.00[ASN][1000 genomes]
rs1274177	1.00[ASN][1000 genomes]
rs12782553	0.86[AFR][1000 genomes]
rs1296513	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343365	1.00[ASN][1000 genomes]
rs1555825	1.00[ASN][1000 genomes]
rs1748492	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748493	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748495	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777944	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1777945	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1777954	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777955	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954410	1.00[ASN][1000 genomes]
rs2419351	1.00[ASN][1000 genomes]
rs2763324	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763331	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2763332	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2763333	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798613	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798616	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2798618	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2798620	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288675	1.00[ASN][1000 genomes]
rs4301707	1.00[ASN][1000 genomes]
rs4933534	1.00[ASN][1000 genomes]
rs6583665	0.89[EUR][1000 genomes]
rs6583667	1.00[ASN][1000 genomes]
rs6583671	1.00[ASN][1000 genomes]
rs67801980	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67876331	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092902	1.00[ASN][1000 genomes]
rs7094046	1.00[ASN][1000 genomes]
rs72820721	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72820722	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1036581	chr10:91526705-91691536	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv949678	chr10:91589048-92016474	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv895883	chr10:91610601-92195828	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1039731	chr10:91645718-92198264	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv540743	chr10:91645718-92198264	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr10:91642600-91664200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:91651400-91664000	Weak transcription	HMEC	breast
3	chr10:91660200-91661600	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:91661400-91662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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