Variant report

Variant	rs72910242
Chromosome Location	chr2:186488342-186488343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11892010	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1468954	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1468955	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17331724	0.81[EUR][1000 genomes]
rs17331826	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17331840	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17403729	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17813104	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55844738	0.84[EUR][1000 genomes]
rs56005149	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56009988	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56019528	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56138606	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56223247	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892005	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72892067	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72892080	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72892435	0.81[EUR][1000 genomes]
rs72892459	0.81[EUR][1000 genomes]
rs72892481	0.81[EUR][1000 genomes]
rs72892484	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72892495	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72894179	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72894197	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72894414	0.88[EUR][1000 genomes]
rs72894415	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72894417	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72894421	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72894440	0.88[EUR][1000 genomes]
rs72894442	0.88[EUR][1000 genomes]
rs72894469	0.88[EUR][1000 genomes]
rs72894475	0.88[EUR][1000 genomes]
rs72894477	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72894479	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72894484	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72894488	0.88[EUR][1000 genomes]
rs72894490	0.88[EUR][1000 genomes]
rs72896016	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72896081	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72896083	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72896412	0.92[EUR][1000 genomes]
rs72896420	0.92[EUR][1000 genomes]
rs72896423	0.92[EUR][1000 genomes]
rs72896483	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896492	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896501	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898409	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898412	0.83[AMR][1000 genomes]
rs72898415	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898424	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898425	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898429	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898431	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72901994	0.83[AMR][1000 genomes]
rs72903907	0.83[AMR][1000 genomes]
rs72904230	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72904234	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72904248	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72906135	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72906138	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72906162	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72906168	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72906183	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72906189	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72910209	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72910236	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72910248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72910273	0.83[AMR][1000 genomes];0.87[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	nsv875531	chr2:186303530-186489537	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875536	chr2:186309738-186504175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1006219	chr2:186352780-186524793	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv584017	chr2:186352959-186515328	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv875543	chr2:186365918-186489537	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1000814	chr2:186391490-186520872	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186483800-186490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186485400-186490600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:186485800-186489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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