Variant report

Variant	rs470006
Chromosome Location	chr22:33398069-33398070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33386658..33389072-chr22:33395353..33398273,2	MCF-7	breast:
2	22:32920308-32927723..22:33389304-33403028	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1012082	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs114509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133926	0.82[CEU][hapmap]
rs133931	0.81[CEU][hapmap]
rs133934	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs133936	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133937	0.85[CEU][hapmap];0.95[GIH][hapmap];0.80[EUR][1000 genomes]
rs133938	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs133942	0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[ASN][1000 genomes]
rs133943	0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[ASN][1000 genomes]
rs133944	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]
rs133945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133948	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs133949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133956	0.82[ASN][1000 genomes]
rs133957	0.82[ASN][1000 genomes]
rs133959	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133962	0.82[ASN][1000 genomes]
rs133963	0.81[ASN][1000 genomes]
rs133965	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133966	0.81[CEU][hapmap]
rs470007	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs470008	0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs470010	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs470011	0.82[ASN][1000 genomes]
rs5754371	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754377	0.92[CEU][hapmap]
rs713832	0.82[ASN][1000 genomes]
rs71699	0.95[CHB][hapmap];0.82[CHD][hapmap];0.89[ASN][1000 genomes]
rs739143	0.95[GIH][hapmap]
rs78506	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.95[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:28 , 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	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
3	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
5	chr22:33391600-33399800	Weak transcription	HepG2	liver
6	chr22:33391800-33398400	Enhancers	HMEC	breast
7	chr22:33393000-33398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:33393400-33399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:33395000-33398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:33395000-33398800	Enhancers	NHEK	skin
11	chr22:33395000-33399000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:33396400-33398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:33396600-33399800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:33396800-33399800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:33396800-33399800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:33396800-33399800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:33396800-33401800	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:33397000-33399800	Weak transcription	Brain Germinal Matrix	brain
19	chr22:33397200-33398800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:33397200-33399800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:33397200-33400600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:33397400-33398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:33397600-33398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr22:33397600-33398200	Enhancers	Hela-S3	cervix
25	chr22:33397600-33399800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:33397600-33399800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:33397800-33399600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:33398000-33399600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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