Variant report

Variant	rs72883965
Chromosome Location	chr2:48398549-48398550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48381488..48383050-chr2:48396788..48398555,2	K562	blood:
2	chr2:48397209..48400158-chr2:48400412..48403741,3	K562	blood:
3	chr2:48371645..48374559-chr2:48396307..48398621,2	K562	blood:
4	chr2:48398522..48400210-chr2:48663770..48666421,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17037226	1.00[AMR][1000 genomes]
rs17039245	1.00[AMR][1000 genomes]
rs56806229	1.00[AMR][1000 genomes]
rs56909791	1.00[AMR][1000 genomes]
rs59044598	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60644316	0.81[AFR][1000 genomes]
rs61405465	1.00[AMR][1000 genomes]
rs6545032	1.00[AMR][1000 genomes]
rs6706584	1.00[AMR][1000 genomes]
rs6707607	1.00[AMR][1000 genomes]
rs6709977	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6711828	1.00[AMR][1000 genomes]
rs6723068	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728719	1.00[AMR][1000 genomes]
rs6731708	1.00[AMR][1000 genomes]
rs6750166	1.00[AMR][1000 genomes]
rs6751375	1.00[AMR][1000 genomes]
rs6757806	1.00[AMR][1000 genomes]
rs72882131	1.00[AMR][1000 genomes]
rs72882141	1.00[AMR][1000 genomes]
rs72882148	1.00[AMR][1000 genomes]
rs72883976	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883981	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885740	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885747	1.00[AMR][1000 genomes]
rs72885750	1.00[AMR][1000 genomes]
rs72885760	1.00[AMR][1000 genomes]
rs72885796	1.00[AMR][1000 genomes]
rs72885800	1.00[AMR][1000 genomes]
rs72885801	1.00[AMR][1000 genomes]
rs72889604	1.00[AMR][1000 genomes]
rs72889610	1.00[AMR][1000 genomes]
rs7557354	1.00[AMR][1000 genomes]
rs7606543	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9678904	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48389200-48400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48395400-48399000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:48397000-48399000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:48397000-48401800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:48397000-48401800	Weak transcription	Adipose Nuclei	Adipose
6	chr2:48397200-48401800	Weak transcription	Liver	Liver
7	chr2:48398000-48400800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:48398000-48401800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:48398400-48398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:48398400-48399000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:48398400-48400200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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