Variant report

Variant	rs12220692
Chromosome Location	chr10:56528956-56528957
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10825390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004462	1.00[CHB][hapmap]
rs11004463	1.00[CHB][hapmap]
rs11004464	1.00[CHB][hapmap]
rs11004465	1.00[CHB][hapmap]
rs11004466	1.00[CHB][hapmap]
rs11004470	0.85[CHB][hapmap]
rs11004473	1.00[CHB][hapmap]
rs11004474	1.00[CHB][hapmap]
rs11004480	0.86[CHB][hapmap]
rs11004490	1.00[CHB][hapmap]
rs11004491	0.85[CHB][hapmap]
rs11004515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004526	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004528	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004529	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004530	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004532	1.00[CHB][hapmap]
rs11004535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11004556	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11004566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11004567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11004570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11004574	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12217615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12218165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12218169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12220919	1.00[CHB][hapmap]
rs12220935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1414690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16906482	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1932602	1.00[CHB][hapmap]
rs2384520	1.00[CHB][hapmap]
rs2384526	1.00[CHB][hapmap]
rs4935119	1.00[CHB][hapmap]
rs4935540	1.00[CHB][hapmap]
rs4935543	1.00[CHB][hapmap]
rs4935545	1.00[CHB][hapmap]
rs4935554	1.00[CHB][hapmap]
rs4935555	1.00[JPT][hapmap]
rs4935556	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4935557	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7073425	0.83[ASN][1000 genomes]
rs7081239	1.00[CHB][hapmap]
rs7086634	1.00[CHB][hapmap]
rs7086650	1.00[CHB][hapmap]
rs7087693	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7905280	0.85[CHB][hapmap]
rs953128	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050405	chr10:56224676-56800009	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv540635	chr10:56224676-56800009	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv933410	chr10:56319433-56713977	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1043144	chr10:56332903-56680265	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv550970	chr10:56361499-56764751	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv2758221	chr10:56408027-56566137	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2759754	chr10:56408027-56566137	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv895447	chr10:56428277-56587755	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv526545	chr10:56462471-56554972	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1053651	chr10:56478151-56545395	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv895449	chr10:56503477-56606168	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv895450	chr10:56504373-56587755	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv895451	chr10:56504373-56606168	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv895452	chr10:56508400-56700597	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv895453	chr10:56512887-56569551	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1047184	chr10:56516350-56996193	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv895454	chr10:56526799-56616917	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56527400-56531000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:56528400-56529600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:56528400-56529600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:56528600-56529200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:56528600-56533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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