Variant report

Variant	rs470004
Chromosome Location	chr22:33389738-33389739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32952823..32954629-chr22:33388460..33390492,2	MCF-7	breast:
2	22:32920308-32927723..22:33389304-33403028	K562	blood:
3	chr22:33385978..33389779-chr22:33390514..33394605,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs133924	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133926	0.93[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133927	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133929	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133931	0.93[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133934	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs133936	0.88[ASN][1000 genomes]
rs133937	0.88[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs133938	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs133941	0.83[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs133966	0.85[CEU][hapmap];0.82[YRI][hapmap]
rs1365837	0.82[ASN][1000 genomes]
rs137552	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs241707	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs241708	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs241709	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs241711	0.89[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs241712	0.86[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs241714	0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs241715	0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs241717	0.87[ASN][1000 genomes]
rs241721	0.86[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs241722	0.84[ASN][1000 genomes]
rs241732	0.85[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs241760	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs241766	0.84[ASN][1000 genomes]
rs241767	0.80[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs5754377	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs5998684	0.84[ASN][1000 genomes]
rs739143	0.81[CEU][hapmap]
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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382000-33390200	Weak transcription	Right Atrium	heart
2	chr22:33382400-33392400	Weak transcription	Lung	lung
3	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:33382600-33390400	Weak transcription	Right Ventricle	heart
5	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:33383800-33390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:33383800-33390400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:33383800-33392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:33384400-33390800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr22:33385200-33390600	Weak transcription	Spleen	Spleen
14	chr22:33385400-33390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:33386200-33397000	Enhancers	Placenta	Placenta
16	chr22:33386600-33393600	Enhancers	Fetal Muscle Leg	muscle
17	chr22:33387400-33391200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:33387400-33391600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:33387400-33391600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr22:33387400-33391600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:33387600-33391600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:33387600-33391600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:33387800-33390000	Weak transcription	Fetal Brain Female	brain
24	chr22:33387800-33391400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr22:33388000-33389800	Weak transcription	Fetal Heart	heart
26	chr22:33388000-33392800	Weak transcription	Brain Hippocampus Middle	brain
27	chr22:33388200-33389800	Weak transcription	Fetal Lung	lung
28	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
29	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
31	chr22:33388400-33389800	Weak transcription	Brain Germinal Matrix	brain
32	chr22:33388400-33390400	Weak transcription	Adipose Nuclei	Adipose
33	chr22:33388400-33390400	Weak transcription	Esophagus	oesophagus
34	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr22:33388600-33389800	Weak transcription	Hela-S3	cervix
36	chr22:33388600-33390000	Weak transcription	Fetal Brain Male	brain
37	chr22:33388800-33390600	Weak transcription	Left Ventricle	heart
38	chr22:33389000-33389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:33389000-33390400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:33389000-33390400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:33389200-33389800	Enhancers	Brain Cingulate Gyrus	brain
42	chr22:33389200-33390400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:33389200-33390400	Weak transcription	HMEC	breast
44	chr22:33389200-33390400	Weak transcription	NHEK	skin
45	chr22:33389200-33391200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:33389200-33391800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:33389200-33392000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:33389400-33389800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr22:33389600-33391000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:33389600-33391600	Enhancers	Fetal Stomach	stomach

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