Variant report

Variant	rs73402647
Chromosome Location	chr22:30570292-30570293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30568484..30570714-chr22:30648672..30650612,2	K562	blood:
2	chr22:30562125..30563712-chr22:30568524..30571379,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs16988115	1.00[AMR][1000 genomes]
rs16988122	1.00[AMR][1000 genomes]
rs16988151	1.00[AMR][1000 genomes]
rs16988387	0.83[AFR][1000 genomes]
rs57724305	1.00[AMR][1000 genomes]
rs58952888	0.83[AMR][1000 genomes]
rs59580785	1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006309	1.00[AMR][1000 genomes]
rs6006317	1.00[AMR][1000 genomes]
rs6006318	1.00[AMR][1000 genomes]
rs6006331	1.00[AMR][1000 genomes]
rs60964812	1.00[AMR][1000 genomes]
rs61043203	1.00[AMR][1000 genomes]
rs61191536	1.00[AMR][1000 genomes]
rs73398604	1.00[AMR][1000 genomes]
rs73398637	1.00[AMR][1000 genomes]
rs73398640	1.00[AMR][1000 genomes]
rs73398663	1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	1.00[AMR][1000 genomes]
rs73400648	1.00[AMR][1000 genomes]
rs73400675	1.00[AMR][1000 genomes]
rs73400689	1.00[AMR][1000 genomes]
rs73402619	1.00[AMR][1000 genomes]
rs73402627	1.00[AMR][1000 genomes]
rs73402640	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402644	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402667	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[AMR][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	chr22:30566400-30571600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:30566400-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:30566400-30573600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:30566600-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:30566600-30571600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:30566600-30571800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:30566600-30573400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr22:30566600-30573800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:30566800-30571600	Weak transcription	Fetal Thymus	thymus
10	chr22:30567000-30571600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr22:30567000-30571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:30568600-30573400	Weak transcription	Thymus	Thymus
13	chr22:30569200-30574400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr22:30570200-30571000	Enhancers	Primary T cells from cord blood	blood

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