Variant report

Variant	rs782247
Chromosome Location	chr1:72915035-72915036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10159193	1.00[AMR][1000 genomes]
rs1084442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239998	1.00[AMR][1000 genomes]
rs13373981	1.00[AMR][1000 genomes]
rs13375319	1.00[AMR][1000 genomes]
rs13376275	1.00[AMR][1000 genomes]
rs13376591	1.00[AMR][1000 genomes]
rs1350765	0.89[AFR][1000 genomes]
rs1599333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1664370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092521	1.00[AMR][1000 genomes]
rs17092541	1.00[AMR][1000 genomes]
rs17092660	1.00[AMR][1000 genomes]
rs17092663	0.94[AFR][1000 genomes]
rs17092672	0.94[AFR][1000 genomes]
rs17131762	1.00[AMR][1000 genomes]
rs2199337	1.00[AMR][1000 genomes]
rs2590946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2613472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2613474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2815769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2815770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544516	1.00[AMR][1000 genomes]
rs290694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs290699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs290700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs482335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs511331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs727623	1.00[AMR][1000 genomes]
rs782200	1.00[AFR][1000 genomes]
rs782201	1.00[AFR][1000 genomes]
rs782206	1.00[AFR][1000 genomes]
rs782209	1.00[AFR][1000 genomes]
rs782213	1.00[AFR][1000 genomes]
rs782217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782254	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs796699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830204	chr1:72749851-72938571	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv947113	chr1:72810737-72948614	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871873	chr1:72861847-72975877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv870463	chr1:72861847-72995398	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv871758	chr1:72861847-72995398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv830215	chr1:72869049-73029787	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong 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	chr1:72905000-72916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:72905200-72921000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:72914800-72915400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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