Variant report

Variant	rs11090601
Chromosome Location	chr22:30567730-30567731
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30566597..30569534-chr22:30572509..30574733,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10483158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11090592	0.82[CEU][hapmap]
rs11090597	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11090600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704206	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11705048	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12165769	1.00[CEU][hapmap]
rs12166998	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12169403	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12169823	1.00[CEU][hapmap]
rs12330007	0.84[AMR][1000 genomes]
rs12627944	0.90[AMR][1000 genomes]
rs17647135	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs3788425	1.00[CEU][hapmap]
rs737906	1.00[CEU][hapmap]
rs737907	1.00[CEU][hapmap]
rs739615	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs916782	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9620935	1.00[CEU][hapmap]
rs9620944	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9620948	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9620955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625910	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9625914	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625922	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625924	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9625930	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30564200-30568600	Enhancers	Thymus	Thymus
2	chr22:30566400-30571600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:30566400-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30566400-30573600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr22:30566600-30570200	Weak transcription	Primary T cells from cord blood	blood
6	chr22:30566600-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:30566600-30571600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30566600-30571800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:30566600-30573400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr22:30566600-30573800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:30566800-30571600	Weak transcription	Fetal Thymus	thymus
12	chr22:30567000-30571600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:30567000-30571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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