Variant report

Variant	rs255453
Chromosome Location	chr12:21771903-21771904
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1626167	0.88[YRI][hapmap]
rs1626303	0.88[YRI][hapmap]
rs1630514	0.92[YRI][hapmap]
rs1650277	0.87[ASW][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap]
rs1650280	0.88[YRI][hapmap]
rs1650288	0.86[YRI][hapmap]
rs1650289	0.89[ASW][hapmap]
rs1650292	0.85[AFR][1000 genomes]
rs1650293	0.89[ASW][hapmap]
rs1650294	0.87[ASW][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap]
rs1650305	0.89[ASW][hapmap]
rs1650314	0.89[ASW][hapmap]
rs1650315	0.89[ASW][hapmap]
rs1677078	0.89[ASW][hapmap]
rs1677085	0.89[ASW][hapmap]
rs1677090	1.00[MKK][hapmap]
rs1677093	0.82[YRI][hapmap]
rs1677094	0.88[YRI][hapmap]
rs1677095	0.88[YRI][hapmap]
rs1677128	0.88[YRI][hapmap]
rs1677129	1.00[MKK][hapmap]
rs1677134	0.94[MKK][hapmap];0.81[YRI][hapmap]
rs1677141	0.87[ASW][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]
rs16924062	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135799	0.89[ASW][hapmap]

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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv898897	chr12:21680363-21781141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1037727	chr12:21689358-21772274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898898	chr12:21713402-21781141	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1051012	chr12:21730236-21781141	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21767200-21785800	Weak transcription	A549	lung
2	chr12:21767800-21772000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:21768000-21772200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:21768400-21772000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:21769200-21785000	Weak transcription	Dnd41	blood
6	chr12:21769200-21785400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:21769400-21786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:21770600-21784200	Weak transcription	Primary T cells from cord blood	blood
9	chr12:21771600-21773000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:21771600-21785600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:21771800-21772000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:21771800-21772600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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