Variant report

Variant	rs133944
Chromosome Location	chr22:33401968-33401969
allele	A/T
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:
2	chr22:33401819..33404560-chr22:33409923..33412850,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000228194	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1012082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs114509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133926	0.83[CEU][hapmap]
rs133931	0.82[CEU][hapmap]
rs133934	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133936	0.81[EUR][1000 genomes]
rs133937	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133938	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133941	0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133942	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs133943	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs133945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133948	0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs133949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133956	0.82[ASN][1000 genomes]
rs133957	0.82[ASN][1000 genomes]
rs133959	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133962	0.82[ASN][1000 genomes]
rs133963	0.81[ASN][1000 genomes]
rs133964	0.81[AMR][1000 genomes]
rs133965	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133966	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs470006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470007	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs470008	0.89[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs470010	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs470011	0.82[ASN][1000 genomes]
rs5754371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754377	0.92[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs713832	0.82[ASN][1000 genomes]
rs71699	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs78506	0.96[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs86666	0.89[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:19 , 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	chr22:33399000-33402400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:33399600-33402000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr22:33399600-33403000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr22:33399600-33403200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr22:33399800-33402000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr22:33399800-33402800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:33399800-33403400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr22:33400400-33402200	Strong transcription	Brain Angular Gyrus	brain
10	chr22:33400400-33403200	Weak transcription	Brain Germinal Matrix	brain
11	chr22:33400600-33403400	Weak transcription	Fetal Brain Female	brain
12	chr22:33400800-33402800	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr22:33401000-33402400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr22:33401200-33402600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:33401400-33403600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:33401400-33403800	Enhancers	HepG2	liver
17	chr22:33401600-33402800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr22:33401800-33403000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:33401800-33403400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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