Variant report

Variant	rs6723068
Chromosome Location	chr2:48418057-48418058
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17037226	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17039245	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56806229	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56909791	1.00[AMR][1000 genomes]
rs59044598	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60644316	0.93[AFR][1000 genomes]
rs61405465	1.00[AMR][1000 genomes]
rs6545032	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706584	1.00[AMR][1000 genomes]
rs6707607	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6711828	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728719	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6731708	1.00[AMR][1000 genomes]
rs6750166	1.00[AMR][1000 genomes]
rs6751375	1.00[AMR][1000 genomes]
rs6757806	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882131	1.00[AMR][1000 genomes]
rs72882141	1.00[AMR][1000 genomes]
rs72882148	1.00[AMR][1000 genomes]
rs72883965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885796	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885801	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889610	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7557354	1.00[AMR][1000 genomes]
rs7606543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9678904	0.83[AFR][1000 genomes];1.00[AMR][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	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
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48412000-48418600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48415000-48423200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:48416000-48418200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:48417000-48418200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:48417600-48423400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:48417800-48418200	Enhancers	HepG2	liver
7	chr2:48418000-48423200	Weak transcription	Monocytes-CD14+_RO01746	blood

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