Variant report

Variant	rs9620947
Chromosome Location	chr22:30498184-30498185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs12166580	1.00[AMR][1000 genomes]
rs12166746	1.00[AMR][1000 genomes]
rs12167143	1.00[AMR][1000 genomes]
rs12167519	1.00[AMR][1000 genomes]
rs12169015	1.00[AMR][1000 genomes]
rs12169042	1.00[AMR][1000 genomes]
rs41479445	1.00[AMR][1000 genomes]
rs9620930	1.00[AMR][1000 genomes]
rs9620945	1.00[AMR][1000 genomes]
rs9625890	1.00[AMR][1000 genomes]
rs9625907	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9625929	1.00[AMR][1000 genomes]
rs9625934	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30493200-30500200	Enhancers	Dnd41	blood
2	chr22:30496400-30498200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:30496600-30500200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr22:30496600-30500600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:30497000-30500000	Weak transcription	Primary T cells from cord blood	blood
6	chr22:30497200-30498200	Enhancers	Fetal Thymus	thymus
7	chr22:30497400-30498200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr22:30497400-30500200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:30497600-30499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:30497800-30498600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr22:30498000-30499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr22:30498000-30499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30498000-30499800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr22:30498000-30499800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr22:30498000-30499800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:30498000-30500000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:30498000-30501000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr22:30498000-30501000	Weak transcription	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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