Variant report

Variant	rs73979143
Chromosome Location	chr2:187204725-187204726
allele	A/G
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:40)

rs_ID	r²[population]
rs10177972	1.00[AMR][1000 genomes]
rs10188241	1.00[AMR][1000 genomes]
rs12463482	1.00[AMR][1000 genomes]
rs1349155	1.00[AMR][1000 genomes]
rs1349156	1.00[AMR][1000 genomes]
rs1375320	1.00[AMR][1000 genomes]
rs1442432	1.00[AMR][1000 genomes]
rs1448853	1.00[AMR][1000 genomes]
rs1448864	1.00[AMR][1000 genomes]
rs1451879	1.00[AMR][1000 genomes]
rs1823298	1.00[AMR][1000 genomes]
rs1992931	1.00[AMR][1000 genomes]
rs2084487	1.00[AMR][1000 genomes]
rs4667096	1.00[AMR][1000 genomes]
rs55745344	1.00[AMR][1000 genomes]
rs58477403	1.00[AMR][1000 genomes]
rs59528603	1.00[AMR][1000 genomes]
rs59701674	1.00[AMR][1000 genomes]
rs60816826	1.00[AMR][1000 genomes]
rs61318824	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434178	1.00[AMR][1000 genomes]
rs6723903	1.00[AMR][1000 genomes]
rs6727428	1.00[AMR][1000 genomes]
rs6740754	1.00[AMR][1000 genomes]
rs6741234	1.00[AMR][1000 genomes]
rs6759051	1.00[AMR][1000 genomes]
rs73979110	1.00[AMR][1000 genomes]
rs73979115	1.00[AMR][1000 genomes]
rs73979116	1.00[AMR][1000 genomes]
rs73979131	1.00[AMR][1000 genomes]
rs73979138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979174	1.00[AMR][1000 genomes]
rs73979189	1.00[AMR][1000 genomes]
rs73979269	1.00[AMR][1000 genomes]
rs73980876	1.00[AMR][1000 genomes]
rs73980888	1.00[AMR][1000 genomes]
rs73980898	1.00[AMR][1000 genomes]
rs7558856	1.00[AMR][1000 genomes]
rs967425	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1014726	chr2:187036909-187213113	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536078	chr2:187036909-187213113	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1006411	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv536079	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv961744	chr2:187189976-187265519	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187188600-187216200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:187192400-187211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187203600-187207800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:187204200-187205200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:187204400-187205000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:187204600-187205200	Enhancers	HSMM	muscle

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