Variant report

Variant	rs12712699
Chromosome Location	chr2:40864775-40864776
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	chr2:40863344..40866000-chr2:40868912..40871639,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1003616	0.83[ASN][1000 genomes]
rs1003617	0.83[ASN][1000 genomes]
rs10172403	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10197146	0.88[EUR][1000 genomes]
rs10201594	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10204982	0.82[ASN][1000 genomes]
rs10206098	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10209336	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10211572	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10445883	0.86[ASN][1000 genomes]
rs10490262	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10490263	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11124752	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11124757	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11682329	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11682367	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11689342	1.00[JPT][hapmap]
rs11885458	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11891229	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11891709	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12469284	0.84[ASN][1000 genomes]
rs12474038	0.84[ASN][1000 genomes]
rs12477533	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12615804	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12712700	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712708	0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12986905	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12995661	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13004542	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13010274	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13016866	0.83[YRI][hapmap]
rs13022083	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13023675	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13023757	0.84[ASN][1000 genomes]
rs13031824	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17026357	0.94[JPT][hapmap]
rs173800	0.84[ASN][1000 genomes]
rs1861305	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1861306	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2024436	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2024437	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs2075195	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2080341	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2098360	0.81[ASN][1000 genomes]
rs2110786	0.83[EUR][1000 genomes]
rs2216041	1.00[JPT][hapmap]
rs2373903	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36081778	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4101520	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs42786	0.85[ASN][1000 genomes]
rs42789	0.80[ASN][1000 genomes]
rs4387847	0.84[ASN][1000 genomes]
rs4528809	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs53534	0.85[ASN][1000 genomes]
rs57950795	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6544350	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6710038	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6713004	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67918843	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs68168524	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74177099	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7557413	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562117	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7563703	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7589309	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs918013	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9309057	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9309058	0.83[ASN][1000 genomes]
rs9677294	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9808252	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv873918	chr2:40805427-40890416	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv470454	chr2:40815238-40896385	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv456429	chr2:40823026-40896385	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581507	chr2:40823026-40896385	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv581508	chr2:40833142-40890416	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv873920	chr2:40833142-40890416	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv581510	chr2:40835285-40869165	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv873921	chr2:40835285-40869165	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv873922	chr2:40835285-40876113	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	nsv873923	chr2:40835285-40890416	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	nsv873924	chr2:40835285-40926138	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
16	nsv873925	chr2:40835285-40966719	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	nsv873926	chr2:40835285-40986860	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv581512	chr2:40843613-40869165	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
23	nsv581513	chr2:40843613-40896385	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40864400-40869200	Weak transcription	Colon Smooth Muscle	Colon

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