Variant report

Variant	rs1894453
Chromosome Location	chr22:33131989-33131990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11089592	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894454	0.92[ASN][1000 genomes]
rs2008206	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2157138	0.93[ASN][1000 genomes]
rs2413145	0.84[ASN][1000 genomes]
rs2413146	0.93[ASN][1000 genomes]
rs2413147	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788487	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788489	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788490	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788491	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788492	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788493	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788494	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788495	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3788496	0.93[ASN][1000 genomes]
rs3788497	0.93[ASN][1000 genomes]
rs3827340	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821091	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5754240	0.97[ASN][1000 genomes]
rs5994613	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998601	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998602	0.86[AMR][1000 genomes]
rs5998605	0.90[ASN][1000 genomes]
rs5998607	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs743739	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs762885	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9606988	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv588897	chr22:33116314-33139230	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33121800-33141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33127800-33133000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:33127800-33133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:33128400-33132200	Enhancers	Thymus	Thymus
5	chr22:33128400-33135000	Enhancers	Fetal Thymus	thymus
6	chr22:33129600-33132000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:33129600-33132000	Enhancers	Placenta	Placenta
8	chr22:33130600-33132800	Weak transcription	HSMMtube	muscle
9	chr22:33130600-33133800	Weak transcription	Spleen	Spleen
10	chr22:33130800-33134600	Enhancers	HepG2	liver
11	chr22:33131200-33132200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr22:33131600-33132000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr22:33131600-33132000	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:33131600-33132600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:33131800-33132000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:33131800-33133200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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