Variant report

Variant	rs2821242
Chromosome Location	chr1:72586779-72586780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10158969	1.00[AMR][1000 genomes]
rs10159137	1.00[AMR][1000 genomes]
rs1026568	1.00[YRI][hapmap]
rs11805445	1.00[AMR][1000 genomes]
rs11812000	1.00[AMR][1000 genomes]
rs1194258	1.00[YRI][hapmap]
rs1194268	1.00[YRI][hapmap]
rs13313022	1.00[AMR][1000 genomes]
rs1460935	1.00[YRI][hapmap]
rs1574837	1.00[AMR][1000 genomes]
rs1675353	1.00[YRI][hapmap]
rs2554405	1.00[AMR][1000 genomes]
rs2554406	1.00[AMR][1000 genomes]
rs2554407	1.00[AMR][1000 genomes]
rs2554408	1.00[AMR][1000 genomes]
rs2554409	1.00[AMR][1000 genomes]
rs2554410	1.00[AMR][1000 genomes]
rs2554418	1.00[AMR][1000 genomes]
rs2630403	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630410	1.00[YRI][hapmap]
rs2630428	1.00[YRI][hapmap]
rs2630432	1.00[YRI][hapmap]
rs2630433	1.00[YRI][hapmap]
rs2630434	1.00[YRI][hapmap]
rs2768382	1.00[AMR][1000 genomes]
rs2768383	1.00[AMR][1000 genomes]
rs2768384	1.00[AMR][1000 genomes]
rs2768385	1.00[AMR][1000 genomes]
rs2768387	1.00[AMR][1000 genomes]
rs2768389	1.00[AMR][1000 genomes]
rs2768391	1.00[AMR][1000 genomes]
rs2768396	1.00[AMR][1000 genomes]
rs2801329	1.00[AMR][1000 genomes]
rs2801330	1.00[AMR][1000 genomes]
rs2801332	1.00[AMR][1000 genomes]
rs2801335	1.00[AMR][1000 genomes]
rs2821237	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2821240	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2821241	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2821284	1.00[YRI][hapmap]
rs2821290	1.00[YRI][hapmap]
rs2821292	1.00[YRI][hapmap]
rs2821302	1.00[YRI][hapmap]
rs28615945	1.00[AMR][1000 genomes]
rs3078155	1.00[AMR][1000 genomes]
rs6681319	1.00[AMR][1000 genomes]
rs6703443	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs72935829	1.00[AMR][1000 genomes]
rs72935832	1.00[AMR][1000 genomes]
rs72935834	1.00[AMR][1000 genomes]
rs967817	1.00[AMR][1000 genomes]
rs967818	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1006076	chr1:72477436-72700903	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv534996	chr1:72477436-72700903	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv870851	chr1:72533927-72611715	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv1013256	chr1:72541220-72620102	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv461906	chr1:72549836-72683226	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv461917	chr1:72549836-72683226	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	nsv546480	chr1:72549836-72683226	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	nsv870742	chr1:72552322-72611715	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv461928	chr1:72555489-72683226	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv546481	chr1:72555489-72683226	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	nsv461939	chr1:72555489-72717743	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv546482	chr1:72555489-72717743	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv546483	chr1:72581966-72659880	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
17	nsv997768	chr1:72583375-72665268	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72581800-72586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:72585800-72587400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:72585800-72587600	Weak transcription	HSMMtube	muscle
4	chr1:72586400-72587000	Enhancers	Colon Smooth Muscle	Colon

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