Variant report

Variant	rs12693416
Chromosome Location	chr2:186630403-186630404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10170781	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10177147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10180581	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10202023	0.90[EUR][1000 genomes]
rs11678064	0.93[EUR][1000 genomes]
rs11686018	0.85[EUR][1000 genomes]
rs11686062	0.88[EUR][1000 genomes]
rs11690475	0.88[EUR][1000 genomes]
rs11691687	0.82[EUR][1000 genomes]
rs11691944	0.82[EUR][1000 genomes]
rs11695761	0.82[EUR][1000 genomes]
rs12612048	0.92[AMR][1000 genomes]
rs12693418	0.85[AMR][1000 genomes]
rs12693419	0.85[AMR][1000 genomes]
rs12991386	0.85[EUR][1000 genomes]
rs12991410	0.88[EUR][1000 genomes]
rs12991698	0.96[EUR][1000 genomes]
rs12998684	0.96[EUR][1000 genomes]
rs13012137	0.88[EUR][1000 genomes]
rs13030170	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13030807	0.81[EUR][1000 genomes]
rs13032463	0.88[EUR][1000 genomes]
rs13033801	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13393583	0.90[EUR][1000 genomes]
rs13429390	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13432887	0.84[EUR][1000 genomes]
rs17206943	0.85[EUR][1000 genomes]
rs17230036	0.96[EUR][1000 genomes]
rs17230101	0.96[EUR][1000 genomes]
rs2287607	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34000575	0.83[EUR][1000 genomes]
rs34093449	0.83[EUR][1000 genomes]
rs34113655	0.83[EUR][1000 genomes]
rs34191961	0.83[EUR][1000 genomes]
rs34221764	0.83[EUR][1000 genomes]
rs34338290	0.88[EUR][1000 genomes]
rs34401996	0.85[AMR][1000 genomes]
rs34449658	0.83[EUR][1000 genomes]
rs34626145	0.88[EUR][1000 genomes]
rs34631835	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34654071	0.88[EUR][1000 genomes]
rs34877204	0.82[EUR][1000 genomes]
rs34879834	0.83[EUR][1000 genomes]
rs35062319	0.83[EUR][1000 genomes]
rs35165452	0.83[EUR][1000 genomes]
rs35267530	0.88[EUR][1000 genomes]
rs35289321	0.83[EUR][1000 genomes]
rs35320505	0.83[EUR][1000 genomes]
rs35537030	0.83[EUR][1000 genomes]
rs35638932	0.83[EUR][1000 genomes]
rs35639419	0.88[EUR][1000 genomes]
rs35781787	0.83[EUR][1000 genomes]
rs35847686	0.83[EUR][1000 genomes]
rs3752671	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66508949	0.83[EUR][1000 genomes]
rs71432404	0.83[EUR][1000 genomes]
rs71432408	0.89[EUR][1000 genomes]
rs7556993	0.83[EUR][1000 genomes]
rs7565527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7584519	0.90[EUR][1000 genomes]
rs7599251	0.83[EUR][1000 genomes]
rs9789468	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584020	chr2:186475590-186661567	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv1796337	chr2:186618494-186704965	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv1797599	chr2:186618494-186882821	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:186606800-186632000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:186613600-186635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:186628600-186635600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:186628800-186634800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:186629200-186635000	Weak transcription	Rectal Mucosa Donor 29	rectum

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