Variant report

Variant	rs227100
Chromosome Location	chr1:70135207-70135208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1145923	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1154974	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1245043	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1245045	0.86[EUR][1000 genomes]
rs1245046	0.86[EUR][1000 genomes]
rs1245047	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1245049	0.86[EUR][1000 genomes]
rs1245050	0.86[EUR][1000 genomes]
rs1245051	0.86[EUR][1000 genomes]
rs1245052	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1245054	0.86[EUR][1000 genomes]
rs1245056	0.86[EUR][1000 genomes]
rs1245057	0.85[EUR][1000 genomes]
rs1245058	0.85[EUR][1000 genomes]
rs1245061	0.85[EUR][1000 genomes]
rs1245063	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1245067	0.86[EUR][1000 genomes]
rs1245068	0.82[EUR][1000 genomes]
rs1245069	0.82[EUR][1000 genomes]
rs1245072	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1261871	0.86[EUR][1000 genomes]
rs1264402	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1264413	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1270434	0.86[EUR][1000 genomes]
rs1270435	0.88[EUR][1000 genomes]
rs1271928	0.86[EUR][1000 genomes]
rs1341779	0.86[EUR][1000 genomes]
rs1341780	0.86[EUR][1000 genomes]
rs1341781	0.86[EUR][1000 genomes]
rs1361613	0.86[EUR][1000 genomes]
rs1418007	0.86[EUR][1000 genomes]
rs1418008	0.86[EUR][1000 genomes]
rs1418012	0.86[EUR][1000 genomes]
rs1615332	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1618786	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1619463	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1622158	0.86[EUR][1000 genomes]
rs1622893	0.86[EUR][1000 genomes]
rs1623673	0.86[EUR][1000 genomes]
rs1625490	0.86[EUR][1000 genomes]
rs1627769	0.86[EUR][1000 genomes]
rs1628716	0.85[EUR][1000 genomes]
rs1631834	0.86[EUR][1000 genomes]
rs1749459	0.86[EUR][1000 genomes]
rs1749473	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1749497	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1749498	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1749499	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1749500	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1749502	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1749506	0.86[EUR][1000 genomes]
rs1749507	0.86[EUR][1000 genomes]
rs1749508	0.86[EUR][1000 genomes]
rs1749510	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1749512	0.86[EUR][1000 genomes]
rs1749514	0.86[EUR][1000 genomes]
rs1749517	0.86[EUR][1000 genomes]
rs1749520	0.86[EUR][1000 genomes]
rs1773309	0.86[EUR][1000 genomes]
rs1773313	0.86[EUR][1000 genomes]
rs1773314	0.86[EUR][1000 genomes]
rs1773315	0.86[EUR][1000 genomes]
rs1773316	0.86[EUR][1000 genomes]
rs1773317	0.86[EUR][1000 genomes]
rs1773318	0.86[EUR][1000 genomes]
rs1773319	0.88[EUR][1000 genomes]
rs1773320	0.86[EUR][1000 genomes]
rs1773321	0.86[EUR][1000 genomes]
rs1773322	0.86[EUR][1000 genomes]
rs1773324	0.86[EUR][1000 genomes]
rs1773325	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1773327	0.86[EUR][1000 genomes]
rs1773329	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1773330	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1773332	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1773333	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1773336	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1773337	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1773338	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1773350	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2094037	0.82[EUR][1000 genomes]
rs2094038	0.80[EUR][1000 genomes]
rs2094039	0.82[ASN][1000 genomes]
rs2104407	0.81[EUR][1000 genomes]
rs2209456	0.86[EUR][1000 genomes]
rs227097	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227102	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs227104	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs227105	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs227107	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs227108	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs227113	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227114	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487762	0.86[EUR][1000 genomes]
rs2487763	0.86[EUR][1000 genomes]
rs2487764	0.86[EUR][1000 genomes]
rs2764522	0.80[EUR][1000 genomes]
rs2764534	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2764535	0.85[EUR][1000 genomes]
rs966069	0.86[EUR][1000 genomes]
rs966070	0.86[EUR][1000 genomes]
rs966071	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2764189	chr1:70111889-70137513	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	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	chr1:70135000-70135600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:70135200-70135400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:70135200-70137200	Weak transcription	NH-A	brain

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