Variant report

Variant	rs323648
Chromosome Location	chr2:111727324-111727325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111726104..111728832-chr2:111876784..111878487,2	K562	blood:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10180604	0.96[EUR][1000 genomes]
rs10183720	0.99[EUR][1000 genomes]
rs1157083	0.81[EUR][1000 genomes]
rs1157084	0.99[EUR][1000 genomes]
rs1157455	0.99[EUR][1000 genomes]
rs11679341	0.99[EUR][1000 genomes]
rs11685628	0.96[EUR][1000 genomes]
rs1384790	0.99[EUR][1000 genomes]
rs1384793	0.99[EUR][1000 genomes]
rs1384795	0.99[EUR][1000 genomes]
rs1384796	0.99[EUR][1000 genomes]
rs1471691	0.97[EUR][1000 genomes]
rs1483533	0.99[EUR][1000 genomes]
rs1483535	0.96[EUR][1000 genomes]
rs1561476	0.80[EUR][1000 genomes]
rs1561477	0.80[EUR][1000 genomes]
rs1837371	0.80[EUR][1000 genomes]
rs1842981	0.99[EUR][1000 genomes]
rs2062221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2062225	0.99[EUR][1000 genomes]
rs2128813	0.99[EUR][1000 genomes]
rs3789093	0.99[EUR][1000 genomes]
rs3789095	0.99[EUR][1000 genomes]
rs4848367	0.97[EUR][1000 genomes]
rs4849340	0.97[EUR][1000 genomes]
rs6419551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542248	0.97[EUR][1000 genomes]
rs6722913	0.99[EUR][1000 genomes]
rs6731964	0.99[EUR][1000 genomes]
rs6733493	0.99[EUR][1000 genomes]
rs6733497	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv963699	chr2:111721639-111729623	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111707000-111729600	Weak transcription	Right Atrium	heart
2	chr2:111713400-111729800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:111724000-111730000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:111724000-111736400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:111727000-111727600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:111727000-111728000	Enhancers	Monocytes-CD14+_RO01746	blood

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