Variant report

Variant	rs71699
Chromosome Location	chr22:33401215-33401216
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: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1012082	0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs114509	0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs133942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133944	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs133945	0.95[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs133946	0.95[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs133948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133949	0.95[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs133956	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133957	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133959	0.84[ASN][1000 genomes]
rs133962	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133963	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs133965	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs133967	0.81[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap]
rs470006	0.95[CHB][hapmap];0.82[CHD][hapmap];0.89[ASN][1000 genomes]
rs470007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs470008	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs470010	0.84[ASN][1000 genomes]
rs470011	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs470013	0.93[GIH][hapmap]
rs5754371	0.89[ASN][1000 genomes]
rs713832	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs78506	0.84[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs86666	1.00[AFR][1000 genomes];1.00[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs71699	OSBP2	cis	cerebellum	SCAN
rs71699	SYN3	cis	parietal	SCAN
rs71699	SYN3	cis	cerebellum	SCAN
rs71699	SLC5A1	cis	cerebellum	SCAN

Chromatin state (count:20 , 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	chr22:33396800-33401800	Weak transcription	Brain Hippocampus Middle	brain
3	chr22:33399000-33402400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:33399600-33402000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr22:33399600-33403000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr22:33399600-33403200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr22:33399800-33401400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:33399800-33401600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr22:33399800-33401800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
10	chr22:33399800-33401800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr22:33399800-33402000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr22:33399800-33402800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:33399800-33403400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr22:33400400-33402200	Strong transcription	Brain Angular Gyrus	brain
15	chr22:33400400-33403200	Weak transcription	Brain Germinal Matrix	brain
16	chr22:33400600-33401400	Weak transcription	HepG2	liver
17	chr22:33400600-33403400	Weak transcription	Fetal Brain Female	brain
18	chr22:33400800-33402800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr22:33401000-33402400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr22:33401200-33402600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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