Variant report

Variant	rs2992131
Chromosome Location	chr1:72117517-72117518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10749801	1.00[AFR][1000 genomes]
rs10749802	1.00[AFR][1000 genomes]
rs11209819	1.00[AFR][1000 genomes]
rs1237570	1.00[AFR][1000 genomes]
rs1334986	0.91[AFR][1000 genomes]
rs1674954	1.00[AFR][1000 genomes]
rs1760607	0.97[AFR][1000 genomes]
rs1762723	0.94[AFR][1000 genomes]
rs1762733	1.00[AFR][1000 genomes]
rs1762735	1.00[AFR][1000 genomes]
rs2422018	1.00[AFR][1000 genomes]
rs2483663	1.00[AFR][1000 genomes]
rs2483664	1.00[AFR][1000 genomes]
rs2611625	1.00[AFR][1000 genomes]
rs2637688	1.00[AFR][1000 genomes]
rs2637689	1.00[AFR][1000 genomes]
rs2781151	1.00[AFR][1000 genomes]
rs2783044	1.00[AFR][1000 genomes]
rs2783045	1.00[AFR][1000 genomes]
rs2783050	0.85[AFR][1000 genomes]
rs2794308	1.00[AFR][1000 genomes]
rs2991329	0.85[AFR][1000 genomes]
rs4556309	1.00[AFR][1000 genomes]
rs492016	1.00[AFR][1000 genomes]
rs500847	0.85[AFR][1000 genomes]
rs503093	0.85[AFR][1000 genomes]
rs523835	0.85[AFR][1000 genomes]
rs553162	1.00[AFR][1000 genomes]
rs564363	0.82[AFR][1000 genomes]
rs568430	0.97[AFR][1000 genomes]
rs6663352	1.00[AFR][1000 genomes]
rs693808	0.94[AFR][1000 genomes]
rs7513706	1.00[AFR][1000 genomes]
rs7553341	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv461884	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv546476	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv461895	chr1:72079898-72206799	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv546477	chr1:72079898-72206799	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1006188	chr1:72081620-72215373	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv534993	chr1:72081620-72215373	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2763317	chr1:72099161-72121585	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1008210	chr1:72099161-72374197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv871330	chr1:72104447-72140399	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	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	chr1:72115400-72117800	Enhancers	NHDF-Ad	bronchial
2	chr1:72116000-72118000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:72116400-72118200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:72117000-72117800	Weak transcription	Colon Smooth Muscle	Colon

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