Variant report

Variant	rs12034125
Chromosome Location	chr1:86406369-86406370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10493777	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10873734	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10873736	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11812027	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12032751	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043396	0.83[EUR][1000 genomes]
rs12088838	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12136742	0.89[EUR][1000 genomes]
rs1858556	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2174051	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4146294	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912448	0.87[EUR][1000 genomes]
rs4912450	0.90[EUR][1000 genomes]
rs491358	0.80[EUR][1000 genomes]
rs533090	0.80[EUR][1000 genomes]
rs591634	0.80[EUR][1000 genomes]
rs606678	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61785115	0.88[EUR][1000 genomes]
rs625872	0.86[EUR][1000 genomes]
rs658934	0.87[EUR][1000 genomes]
rs6667008	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs668874	0.80[EUR][1000 genomes]
rs6703317	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6703454	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs729102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7512039	0.86[EUR][1000 genomes]
rs7526013	0.86[EUR][1000 genomes]
rs7536689	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs997439	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv462395	chr1:86379514-86457334	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv546726	chr1:86379514-86457334	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv546727	chr1:86381650-86416725	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv437701	chr1:86385876-86416343	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv546735	chr1:86392577-86407135	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3320360	chr1:86400464-86406462	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
10	nsv508371	chr1:86400824-86430847	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv1807109	chr1:86402185-86407135	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
12	nsv546743	chr1:86402185-86407135	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
13	nsv546744	chr1:86402185-86412177	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
14	esv2595836	chr1:86405148-86406593	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86401200-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:86404200-86416000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86404800-86411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:86405400-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:86406000-86407600	Enhancers	Fetal Stomach	stomach
6	chr1:86406200-86406400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:86406200-86406600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:86406200-86407200	Enhancers	Fetal Lung	lung

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