Variant report

Variant	rs12083965
Chromosome Location	chr1:86329547-86329548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11161689	0.92[EUR][1000 genomes]
rs11161691	0.92[EUR][1000 genomes]
rs11161692	0.93[EUR][1000 genomes]
rs11161694	0.93[EUR][1000 genomes]
rs11161698	0.91[EUR][1000 genomes]
rs12091504	0.93[EUR][1000 genomes]
rs12240129	0.82[EUR][1000 genomes]
rs12723176	0.81[EUR][1000 genomes]
rs12725203	0.91[EUR][1000 genomes]
rs12725350	0.91[EUR][1000 genomes]
rs12726975	0.91[EUR][1000 genomes]
rs12727503	0.91[EUR][1000 genomes]
rs12731603	0.93[EUR][1000 genomes]
rs12732365	0.87[EUR][1000 genomes]
rs12734458	0.89[EUR][1000 genomes]
rs12735496	0.91[EUR][1000 genomes]
rs12739200	0.89[EUR][1000 genomes]
rs12739425	0.91[EUR][1000 genomes]
rs12739620	0.91[EUR][1000 genomes]
rs12740827	0.91[EUR][1000 genomes]
rs12740836	0.91[EUR][1000 genomes]
rs12745489	0.85[EUR][1000 genomes]
rs12746617	0.89[EUR][1000 genomes]
rs12747420	0.89[EUR][1000 genomes]
rs12751341	0.80[EUR][1000 genomes]
rs12752474	0.89[EUR][1000 genomes]
rs12753255	0.91[EUR][1000 genomes]
rs12755099	0.88[EUR][1000 genomes]
rs12755570	0.91[EUR][1000 genomes]
rs12757388	0.91[EUR][1000 genomes]
rs12759687	0.93[EUR][1000 genomes]
rs1604567	0.89[EUR][1000 genomes]
rs2086495	0.93[EUR][1000 genomes]
rs2170331	0.91[EUR][1000 genomes]
rs28415684	0.87[EUR][1000 genomes]
rs28571037	0.84[EUR][1000 genomes]
rs35545564	0.91[EUR][1000 genomes]
rs35826410	0.81[EUR][1000 genomes]
rs6657706	0.86[EUR][1000 genomes]
rs6665006	0.81[EUR][1000 genomes]
rs67487620	0.85[EUR][1000 genomes]
rs71078626	0.83[EUR][1000 genomes]
rs7520948	0.93[EUR][1000 genomes]
rs7523196	0.91[EUR][1000 genomes]
rs7530839	0.91[EUR][1000 genomes]
rs7539765	0.90[EUR][1000 genomes]
rs7554796	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv871189	chr1:86315724-86402244	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86305000-86332600	Weak transcription	Fetal Lung	lung
2	chr1:86326200-86334400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86328600-86330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:86328600-86330800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:86328600-86331000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:86328800-86329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86329000-86334200	Enhancers	Dnd41	blood

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