Variant report

Variant	rs1392293
Chromosome Location	chr3:46100885-46100886
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46035149..46036764-chr3:46100668..46103208,2	K562	blood:
2	chr3:46095387..46098200-chr3:46100479..46102760,2	K562	blood:
3	chr3:46100682..46102669-chr3:46103976..46105710,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1388605	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1388606	0.85[EUR][1000 genomes]
rs1388608	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1392288	0.86[CEU][hapmap]
rs1392294	0.95[AFR][1000 genomes]
rs1392295	0.92[AFR][1000 genomes]
rs1491949	0.85[EUR][1000 genomes]
rs1546076	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1566419	0.85[EUR][1000 genomes]
rs1809733	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1826342	0.85[EUR][1000 genomes]
rs1846619	0.92[AFR][1000 genomes]
rs1873616	0.84[EUR][1000 genomes]
rs2036293	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133663	0.95[AFR][1000 genomes]
rs2133664	0.92[AFR][1000 genomes]
rs2133665	0.92[AFR][1000 genomes]
rs2133666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173640	0.95[AFR][1000 genomes]
rs2173641	0.88[AFR][1000 genomes]
rs2371	0.91[EUR][1000 genomes]
rs2373148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2373149	0.85[EUR][1000 genomes]
rs2373152	0.83[EUR][1000 genomes]
rs2373155	0.86[CEU][hapmap]
rs2888511	0.91[EUR][1000 genomes]
rs4321566	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4490403	0.92[AFR][1000 genomes]
rs4490404	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493468	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637320	0.92[AFR][1000 genomes]
rs4682801	0.95[CEU][hapmap]
rs4682811	0.83[EUR][1000 genomes]
rs4683158	0.95[CEU][hapmap]
rs4683171	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683172	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4683173	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4683177	0.85[EUR][1000 genomes]
rs4683181	0.81[EUR][1000 genomes]
rs6441938	0.84[EUR][1000 genomes]
rs6441939	0.91[EUR][1000 genomes]
rs6764189	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6766332	0.92[AFR][1000 genomes]
rs6767559	0.85[EUR][1000 genomes]
rs6786959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802312	0.95[CEU][hapmap]
rs6807578	0.83[EUR][1000 genomes]
rs6808712	0.85[EUR][1000 genomes]
rs6809223	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7610953	0.85[EUR][1000 genomes]
rs7622333	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7625348	0.85[EUR][1000 genomes]
rs7638309	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7653682	0.95[CEU][hapmap]
rs902760	0.85[EUR][1000 genomes]
rs9311384	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9311385	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9311388	0.85[EUR][1000 genomes]
rs974380	0.91[EUR][1000 genomes]
rs974381	0.91[EUR][1000 genomes]
rs9811555	0.91[EUR][1000 genomes]
rs9820016	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9869458	0.85[EUR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46096400-46106200	Weak transcription	Lung	lung
2	chr3:46099000-46105400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46099800-46101400	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:46100000-46101000	Enhancers	Primary B cells from cord blood	blood
5	chr3:46100000-46101000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr3:46100400-46101200	Flanking Active TSS	GM12878-XiMat	blood
7	chr3:46100600-46101200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:46100600-46102600	Weak transcription	Right Atrium	heart
9	chr3:46100800-46102600	Weak transcription	Adipose Nuclei	Adipose
10	chr3:46100800-46103600	Weak transcription	Spleen	Spleen

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