Variant report

Variant	rs5749593
Chromosome Location	chr22:33667187-33667188
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	chr22:33647540..33649904-chr22:33665416..33667632,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs5749592	0.95[EUR][1000 genomes]
rs5994706	0.83[EUR][1000 genomes]
rs5998831	0.92[EUR][1000 genomes]
rs6518816	0.81[EUR][1000 genomes]
rs73166225	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33661600-33670600	Weak transcription	Lung	lung
3	chr22:33664400-33672600	Enhancers	Primary B cells from peripheral blood	blood
4	chr22:33664600-33668800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:33664600-33669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:33665200-33672800	Enhancers	HepG2	liver
7	chr22:33665400-33667600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:33665600-33669200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:33666000-33667800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:33666000-33668800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:33666000-33676800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:33666200-33667800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr22:33666200-33668400	Enhancers	Brain Hippocampus Middle	brain
14	chr22:33666200-33668800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:33666200-33668800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:33666200-33676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:33666400-33667400	Enhancers	Liver	Liver
18	chr22:33666400-33667800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:33666400-33667800	Enhancers	Brain Substantia Nigra	brain
20	chr22:33666400-33669200	Weak transcription	Fetal Stomach	stomach
21	chr22:33666600-33668800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:33666800-33667400	Weak transcription	Aorta	Aorta
23	chr22:33666800-33667600	Enhancers	Brain Cingulate Gyrus	brain
24	chr22:33666800-33667800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr22:33666800-33668000	Enhancers	Brain Angular Gyrus	brain
26	chr22:33666800-33668200	Enhancers	Brain Anterior Caudate	brain
27	chr22:33666800-33668200	Enhancers	Fetal Muscle Leg	muscle
28	chr22:33666800-33668400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr22:33666800-33668800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:33667000-33668400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:33667000-33668400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:33667000-33668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:33667000-33669600	Flanking Active TSS	GM12878-XiMat	blood
35	chr22:33667000-33669800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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