Variant report

Variant	rs12991386
Chromosome Location	chr2:186533359-186533360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186532536..186534671-chr2:186536499..186538385,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10170781	0.88[EUR][1000 genomes]
rs10177147	0.88[EUR][1000 genomes]
rs10180581	0.88[EUR][1000 genomes]
rs10202023	0.95[EUR][1000 genomes]
rs11675192	0.89[EUR][1000 genomes]
rs11675629	0.88[EUR][1000 genomes]
rs11676655	0.85[EUR][1000 genomes]
rs11678064	0.93[EUR][1000 genomes]
rs11681517	0.91[EUR][1000 genomes]
rs11681870	0.88[EUR][1000 genomes]
rs11683123	0.91[EUR][1000 genomes]
rs11686018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686062	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11686861	0.88[EUR][1000 genomes]
rs11690475	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11691490	0.88[EUR][1000 genomes]
rs11691615	0.88[EUR][1000 genomes]
rs11691687	0.96[EUR][1000 genomes]
rs11691944	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11693233	0.86[EUR][1000 genomes]
rs11695761	0.96[EUR][1000 genomes]
rs12693416	0.85[EUR][1000 genomes]
rs12988744	0.88[EUR][1000 genomes]
rs12991410	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12991698	0.89[EUR][1000 genomes]
rs12998684	0.89[EUR][1000 genomes]
rs13002265	0.91[EUR][1000 genomes]
rs13007661	0.91[EUR][1000 genomes]
rs13011116	0.91[EUR][1000 genomes]
rs13012137	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13014616	0.85[EUR][1000 genomes]
rs13015041	0.91[EUR][1000 genomes]
rs13030170	0.88[EUR][1000 genomes]
rs13030807	0.95[EUR][1000 genomes]
rs13032463	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13033801	0.88[EUR][1000 genomes]
rs13393583	0.95[EUR][1000 genomes]
rs13429390	0.88[EUR][1000 genomes]
rs13432887	0.89[EUR][1000 genomes]
rs17206943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17230036	0.89[EUR][1000 genomes]
rs17230101	0.89[EUR][1000 genomes]
rs2287607	0.88[EUR][1000 genomes]
rs34000575	0.97[EUR][1000 genomes]
rs34087779	0.88[EUR][1000 genomes]
rs34093449	0.97[EUR][1000 genomes]
rs34113655	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34152682	0.91[EUR][1000 genomes]
rs34191961	0.97[EUR][1000 genomes]
rs34221764	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34338290	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34420134	0.88[EUR][1000 genomes]
rs34449658	0.97[EUR][1000 genomes]
rs34537855	0.88[EUR][1000 genomes]
rs34571837	0.91[EUR][1000 genomes]
rs34626145	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34631835	0.89[EUR][1000 genomes]
rs34654071	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34661485	0.91[EUR][1000 genomes]
rs34826735	0.88[EUR][1000 genomes]
rs34877204	0.96[EUR][1000 genomes]
rs34879834	0.97[EUR][1000 genomes]
rs34969380	0.87[EUR][1000 genomes]
rs35047001	0.85[EUR][1000 genomes]
rs35062319	0.97[EUR][1000 genomes]
rs35066265	0.88[EUR][1000 genomes]
rs35110878	0.94[EUR][1000 genomes]
rs35165452	0.97[EUR][1000 genomes]
rs35201815	0.91[EUR][1000 genomes]
rs35207414	0.91[EUR][1000 genomes]
rs35267530	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35289321	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35320505	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35537030	0.97[EUR][1000 genomes]
rs35638932	0.97[EUR][1000 genomes]
rs35639419	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35781787	0.97[EUR][1000 genomes]
rs35847686	0.97[EUR][1000 genomes]
rs35871462	0.87[EUR][1000 genomes]
rs35920523	0.88[EUR][1000 genomes]
rs36012390	0.91[EUR][1000 genomes]
rs36065595	0.91[EUR][1000 genomes]
rs3752671	0.88[EUR][1000 genomes]
rs61459829	0.85[EUR][1000 genomes]
rs66508949	0.97[EUR][1000 genomes]
rs67035495	0.90[EUR][1000 genomes]
rs6708098	0.89[EUR][1000 genomes]
rs6731674	0.85[EUR][1000 genomes]
rs6739732	0.91[EUR][1000 genomes]
rs67432566	0.88[EUR][1000 genomes]
rs67629903	0.90[EUR][1000 genomes]
rs67784166	0.91[EUR][1000 genomes]
rs71430186	0.88[EUR][1000 genomes]
rs71432404	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71432408	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72896456	0.91[EUR][1000 genomes]
rs7556993	0.97[EUR][1000 genomes]
rs7565527	0.88[EUR][1000 genomes]
rs7584519	0.95[EUR][1000 genomes]
rs7599251	0.97[EUR][1000 genomes]
rs9789468	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004048	chr2:186303297-186541503	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875540	chr2:186345148-186583961	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875541	chr2:186345148-186598526	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv584018	chr2:186352959-186598526	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv916442	chr2:186356363-186534152	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1000561	chr2:186450293-186556017	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	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
10	nsv1004422	chr2:186463915-186556017	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	nsv1011628	chr2:186523096-186594343	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1003484	chr2:186524793-186591557	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv1003603	chr2:186524793-186594343	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv2751838	chr2:186531835-186591557	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv584022	chr2:186531835-186591557	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv1010456	chr2:186531835-186594343	Enhancers Weak transcription	Chromatin interactive region lncRNA	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	chr2:186533000-186533600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:186533200-186533800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:186533200-186534200	Enhancers	Dnd41	blood

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