Variant report

Variant	rs61346650
Chromosome Location	chr2:54984228-54984229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17046386	1.00[AMR][1000 genomes]
rs59015634	1.00[AMR][1000 genomes]
rs6712532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723047	0.85[AMR][1000 genomes]
rs6740845	1.00[AMR][1000 genomes]
rs73934809	0.82[AFR][1000 genomes]
rs73934812	0.85[AFR][1000 genomes]
rs73934813	0.89[AFR][1000 genomes]
rs73934833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934839	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73934840	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935663	0.83[AMR][1000 genomes]
rs73935667	1.00[AMR][1000 genomes]
rs73935669	0.85[AMR][1000 genomes]
rs73936455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936460	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73936464	0.83[AFR][1000 genomes];1.00[AMR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54982200-54986400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:54983000-54984800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:54983400-54984400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:54983400-54984400	Weak transcription	Thymus	Thymus
5	chr2:54983400-54984600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:54983400-54984600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:54983400-54984800	Enhancers	GM12878-XiMat	blood
8	chr2:54983600-54984600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:54983600-54984600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:54983600-54984600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:54983600-54984600	Weak transcription	NHEK	skin
12	chr2:54983600-54985600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:54983600-54991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:54983800-54985800	Enhancers	Primary B cells from cord blood	blood
15	chr2:54984200-54985600	Enhancers	HUES48 Cell Line	embryonic stem cell

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

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