Variant report

Variant	rs6718975
Chromosome Location	chr2:53255396-53255397
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10198783	0.85[EUR][1000 genomes]
rs1446445	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1446448	0.80[ASN][1000 genomes]
rs1446449	0.80[ASN][1000 genomes]
rs2121302	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2121304	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2357014	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4995220	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72893009	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1011257	chr2:53212297-53270575	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
4	nsv874139	chr2:53216917-53277205	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
5	nsv581979	chr2:53216917-53288066	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
6	nsv874140	chr2:53218774-53277205	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
7	nsv1000235	chr2:53218841-53290638	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
8	nsv581980	chr2:53219203-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
9	nsv1014197	chr2:53219203-53290638	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
10	nsv581981	chr2:53222962-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53248800-53255400	Weak transcription	Fetal Lung	lung
2	chr2:53253800-53256600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:53254200-53255800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:53254200-53256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:53254200-53256200	Enhancers	NHDF-Ad	bronchial
6	chr2:53254400-53260000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:53255000-53255800	Enhancers	NHLF	lung
8	chr2:53255000-53256200	Enhancers	HSMMtube	muscle
9	chr2:53255200-53255600	Enhancers	HSMM	muscle
10	chr2:53255200-53255800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:53255200-53255800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:53255200-53255800	Enhancers	HMEC	breast
13	chr2:53255200-53255800	Enhancers	Osteobl	bone
14	chr2:53255200-53256200	Enhancers	Adipose Nuclei	Adipose
15	chr2:53255200-53256200	Enhancers	NH-A	brain
16	chr2:53255200-53256400	Enhancers	Hela-S3	cervix
17	chr2:53255200-53256600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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