Variant report

Variant	rs5998684
Chromosome Location	chr22:33376984-33376985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33376392..33378226-chr22:33378707..33381448,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs133924	0.88[ASN][1000 genomes]
rs133926	0.89[ASN][1000 genomes]
rs133927	0.89[ASN][1000 genomes]
rs133929	0.87[ASN][1000 genomes]
rs133931	0.87[ASN][1000 genomes]
rs133934	0.83[ASN][1000 genomes]
rs133936	0.83[ASN][1000 genomes]
rs133937	0.83[ASN][1000 genomes]
rs133938	0.83[ASN][1000 genomes]
rs1365837	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs137552	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241707	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241708	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241711	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241712	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241714	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241715	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241717	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs241721	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241722	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241731	0.81[ASN][1000 genomes]
rs241732	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241756	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241759	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241760	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241766	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241767	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4518061	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs470004	0.84[ASN][1000 genomes]
rs5754366	0.81[ASN][1000 genomes]
rs9609676	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
4	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
5	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:33368800-33381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:33374000-33381800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:33374400-33380400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:33374600-33381800	Weak transcription	Brain Angular Gyrus	brain
10	chr22:33374800-33381200	Weak transcription	Lung	lung
11	chr22:33376000-33380400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr22:33376200-33381800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:33376200-33381800	Weak transcription	HepG2	liver
14	chr22:33376200-33382400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:33376400-33380400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:33376400-33381800	Weak transcription	Liver	Liver
17	chr22:33376600-33382000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:33376800-33378600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:33376800-33378800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:33376800-33380200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:33376800-33381800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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