Variant report

Variant	rs133934
Chromosome Location	chr22:33395296-33395297
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	chr22:33196410..33199341-chr22:33390721..33395867,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1012082	0.84[AMR][1000 genomes]
rs114509	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs133924	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs133926	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs133927	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs133929	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133931	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133936	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133937	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133938	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133941	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs133944	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133945	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs133946	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs133949	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs133959	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133964	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs133965	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133966	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1365837	0.82[ASN][1000 genomes]
rs137552	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs241707	0.86[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs241708	0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs241709	0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs241711	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs241712	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs241714	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs241715	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs241717	0.87[ASN][1000 genomes]
rs241721	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs241722	0.84[ASN][1000 genomes]
rs241725	0.87[CHB][hapmap]
rs241727	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs241729	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241731	0.87[CHB][hapmap]
rs241732	0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs241758	0.86[CHB][hapmap]
rs241760	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs241764	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241766	0.84[ASN][1000 genomes]
rs241767	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4518061	0.80[ASN][1000 genomes]
rs470004	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs470006	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs470010	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5754371	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5754377	0.96[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5998684	0.83[ASN][1000 genomes]
rs739143	0.92[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs78506	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9609676	0.88[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:47 , 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	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:33386200-33397000	Enhancers	Placenta	Placenta
5	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
6	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
8	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:33389600-33396600	Weak transcription	Brain Anterior Caudate	brain
10	chr22:33390800-33396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
12	chr22:33391000-33395800	Weak transcription	Brain Germinal Matrix	brain
13	chr22:33391000-33396400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:33391200-33395400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:33391200-33395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:33391200-33395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr22:33391200-33396400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:33391200-33396400	Weak transcription	Fetal Brain Male	brain
19	chr22:33391400-33395400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:33391600-33396400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:33391600-33396400	Weak transcription	Fetal Lung	lung
22	chr22:33391600-33399800	Weak transcription	HepG2	liver
23	chr22:33391800-33395800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:33391800-33398400	Enhancers	HMEC	breast
25	chr22:33392000-33395400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr22:33392800-33395600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:33393000-33395800	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:33393000-33396400	Weak transcription	Fetal Heart	heart
29	chr22:33393000-33398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:33393200-33395400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr22:33393200-33395600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:33393200-33395800	Weak transcription	Fetal Stomach	stomach
33	chr22:33393400-33396400	Weak transcription	Lung	lung
34	chr22:33393400-33396600	Weak transcription	Adipose Nuclei	Adipose
35	chr22:33393400-33399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:33393600-33395600	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:33394400-33395800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:33395000-33396600	Enhancers	Hela-S3	cervix
39	chr22:33395000-33397200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:33395000-33398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:33395000-33398800	Enhancers	NHEK	skin
42	chr22:33395000-33399000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:33395200-33395800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:33395200-33396200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:33395200-33396200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:33395200-33396400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr22:33395200-33397200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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