Variant report

Variant	rs12171263
Chromosome Location	chr22:30557281-30557282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10048885	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11090598	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12167333	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12168499	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12171061	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12171250	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648725	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1807509	0.82[AFR][1000 genomes]
rs193473	0.83[EUR][1000 genomes]
rs193481	0.84[EUR][1000 genomes]
rs1978083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28257	0.82[EUR][1000 genomes]
rs41175	0.84[EUR][1000 genomes]
rs41179	0.83[EUR][1000 genomes]
rs4239933	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4337577	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4823070	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5763689	0.82[AFR][1000 genomes]
rs62226440	0.89[AFR][1000 genomes]
rs718772	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7510705	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8135823	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138286	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141404	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141765	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620953	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625919	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625926	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625931	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625935	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30553800-30558200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30554800-30557600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:30555000-30557600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr22:30555200-30557600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:30555400-30557400	Enhancers	Primary hematopoietic stem cells	blood
6	chr22:30555400-30558600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:30555600-30557400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:30555600-30557600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:30555600-30558200	Enhancers	Thymus	Thymus
10	chr22:30555800-30558200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr22:30556200-30557400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr22:30556400-30557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:30556600-30558200	Enhancers	Dnd41	blood
14	chr22:30557200-30558000	Weak transcription	Fetal Thymus	thymus

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