Variant report

Variant	rs2822545
Chromosome Location	chr21:15653247-15653248
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15644504..15646965-chr21:15652945..15655779,2	K562	blood:
2	chr21:15652280..15654566-chr21:15773386..15776181,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243064	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1123271	1.00[CHB][hapmap]
rs1297125	1.00[CHB][hapmap]
rs17002266	1.00[CHB][hapmap]
rs2822525	1.00[CHB][hapmap]
rs2822527	1.00[CHB][hapmap]
rs2822534	1.00[CHB][hapmap]
rs2822535	1.00[CHB][hapmap]
rs2822553	1.00[JPT][hapmap]
rs2822558	1.00[JPT][hapmap]
rs2822560	1.00[CHB][hapmap]
rs2822561	1.00[JPT][hapmap]
rs2822570	1.00[JPT][hapmap]
rs62227527	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909257	1.00[CHB][hapmap]
rs914115	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv520538	chr21:15615220-15660539	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1062532	chr21:15616629-15654501	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1067478	chr21:15616629-15657107	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1062500	chr21:15620391-15657107	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv544374	chr21:15624517-15656011	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1066930	chr21:15626232-15724630	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv459095	chr21:15626660-15698808	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv587044	chr21:15626660-15698808	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv470878	chr21:15630812-15698808	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1799107	chr21:15650925-15656052	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15653000-15653400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr21:15653000-15653400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr21:15653000-15653600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:15653000-15653600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr21:15653000-15653600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr21:15653000-15654000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr21:15653000-15654000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr21:15653200-15653400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:15653200-15653400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr21:15653200-15653600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:15653200-15653600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:15653200-15653600	Active TSS	Fetal Intestine Large	intestine
13	chr21:15653200-15653800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr21:15653200-15653800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:15653200-15654000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr21:15653200-15654000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr21:15653200-15654000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr21:15653200-15654000	Enhancers	Placenta	Placenta
19	chr21:15653200-15654200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr21:15653200-15657000	Weak transcription	K562	blood

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