Variant report

Variant	rs255445
Chromosome Location	chr12:21775004-21775005
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10841863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10841864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10841865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10841866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427830	0.88[AFR][1000 genomes]
rs1624003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1626167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1626303	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630514	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650272	0.84[AFR][1000 genomes]
rs1650277	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650283	0.82[AFR][1000 genomes]
rs1650284	0.88[AFR][1000 genomes]
rs1650285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650288	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650294	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677090	0.86[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs1677092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677093	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677094	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677095	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677113	0.87[AFR][1000 genomes]
rs1677118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677124	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs1677128	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677129	0.86[ASW][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs1677134	0.86[ASW][hapmap];0.94[MKK][hapmap];0.81[YRI][hapmap]
rs1677135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677140	0.87[AFR][1000 genomes]
rs1677141	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs255452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2559823	0.95[AFR][1000 genomes]
rs2617117	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2617118	0.98[AFR][1000 genomes]
rs4438091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4762714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4762856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4762858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4762859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4762862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61410104	0.87[AFR][1000 genomes]
rs7299671	0.87[AFR][1000 genomes]
rs7299674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs759933	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs7974267	1.00[AFR][1000 genomes];1.00[AMR][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	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	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
8	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
9	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21767200-21785800	Weak transcription	A549	lung
2	chr12:21769200-21785000	Weak transcription	Dnd41	blood
3	chr12:21769200-21785400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:21769400-21786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:21770600-21784200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:21771600-21785600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:21773200-21786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:21773800-21784000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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