Variant report

Variant	rs73402651
Chromosome Location	chr22:30573845-30573846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30572974..30575088-chr22:30642286..30645373,3	MCF-7	breast:
2	chr22:30566597..30569534-chr22:30572509..30574733,2	K562	blood:
3	chr22:30573019..30575061-chr22:30649550..30652026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128342	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58898724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58972070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60615268	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73400673	1.00[AMR][1000 genomes]
rs73400695	1.00[AMR][1000 genomes]
rs73402686	0.80[AFR][1000 genomes];1.00[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30569200-30574400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr22:30571600-30574400	Enhancers	Primary hematopoietic stem cells	blood
3	chr22:30571600-30574800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:30572000-30574000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr22:30572000-30574200	Weak transcription	A549	lung
6	chr22:30572000-30575400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:30572000-30577400	Weak transcription	Fetal Intestine Small	intestine
8	chr22:30572200-30574200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:30572200-30574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:30572200-30575600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:30572200-30576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:30572800-30578000	Weak transcription	Spleen	Spleen
13	chr22:30572800-30579000	Weak transcription	Fetal Brain Male	brain
14	chr22:30573200-30575000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:30573200-30575400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:30573200-30576400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr22:30573400-30575000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:30573400-30575000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr22:30573400-30575400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr22:30573400-30575600	Enhancers	Primary T cells from cord blood	blood
21	chr22:30573400-30575600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr22:30573400-30575600	Enhancers	Thymus	Thymus
23	chr22:30573400-30575800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr22:30573600-30576400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr22:30573600-30579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:30573800-30574200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:30573800-30575000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr22:30573800-30575000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr22:30573800-30575200	Enhancers	Fetal Thymus	thymus
30	chr22:30573800-30575600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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