Variant report

Variant	rs2786561
Chromosome Location	chr1:224742341-224742342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2648739	0.83[AMR][1000 genomes]
rs2648740	1.00[EUR][1000 genomes]
rs2648741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56879180	1.00[EUR][1000 genomes]
rs60936981	1.00[EUR][1000 genomes]
rs61631299	1.00[EUR][1000 genomes]
rs712088	1.00[EUR][1000 genomes]
rs712089	1.00[EUR][1000 genomes]
rs74146223	1.00[EUR][1000 genomes]
rs74146268	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224731600-224746400	Weak transcription	Psoas Muscle	Psoas
2	chr1:224736800-224746400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:224740000-224762200	Weak transcription	Ovary	ovary
4	chr1:224741200-224742600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224741200-224742600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:224741200-224743000	Enhancers	NHEK	skin
7	chr1:224741400-224751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224742000-224746000	Weak transcription	HMEC	breast
9	chr1:224742000-224746200	Weak transcription	NHDF-Ad	bronchial
10	chr1:224742000-224746400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:224742000-224753000	Weak transcription	Pancreas	Pancrea
12	chr1:224742200-224742600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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