Variant report

Variant	rs5994652
Chromosome Location	chr22:33400025-33400026
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	22:32920308-32927723..22:33389304-33403028	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

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

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

rs_ID	r²[population]
rs10483168	1.00[JPT][hapmap]
rs11089599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11703516	1.00[JPT][hapmap]
rs11703670	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11703699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11704652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12158631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159195	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12160502	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133928	1.00[CHB][hapmap]
rs137543	1.00[CHB][hapmap]
rs137559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs137561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17779789	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2042793	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2042794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2081727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs25112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4560230	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5998677	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998681	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998685	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998694	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998696	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5998701	0.82[EUR][1000 genomes]
rs73162045	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73162064	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:33396800-33401800	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:33397200-33400600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:33399000-33402400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:33399600-33402000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr22:33399600-33403000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr22:33399600-33403200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr22:33399800-33400200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:33399800-33400400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr22:33399800-33400400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:33399800-33400400	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr22:33399800-33400600	ZNF genes & repeats	Fetal Brain Female	brain
14	chr22:33399800-33400600	ZNF genes & repeats	HepG2	liver
15	chr22:33399800-33401400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:33399800-33401600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr22:33399800-33401800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr22:33399800-33401800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr22:33399800-33402000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr22:33399800-33402800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:33399800-33403400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr22:33400000-33400400	ZNF genes & repeats	Brain Angular Gyrus	brain

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