Variant report

Variant	rs699633
Chromosome Location	chr12:64554035-64554036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64551757..64554442-chr12:64615598..64617387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243024	Chromatin interaction
ENSG00000174206	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1021665	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10748001	0.81[CEU][hapmap]
rs10748002	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10748003	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784384	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784385	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878110	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878111	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10878114	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10878115	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10878116	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878117	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878118	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10878126	0.81[YRI][hapmap]
rs11175269	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11175270	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464055	0.83[YRI][hapmap]
rs2643665	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3932167	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763139	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722526	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs789711	0.96[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs789712	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs789713	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs789721	0.85[YRI][hapmap]
rs789748	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs789752	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64531600-64554400	Weak transcription	NH-A	brain
2	chr12:64540400-64558800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:64541400-64554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:64553200-64554600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:64553400-64554600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:64553400-64554600	Flanking Active TSS	NHDF-Ad	bronchial
7	chr12:64553400-64554800	Enhancers	HMEC	breast
8	chr12:64553400-64555000	Enhancers	HUVEC	blood vessel
9	chr12:64553400-64555200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:64553400-64555400	Enhancers	NHEK	skin
11	chr12:64553600-64554800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:64553800-64554600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:64553800-64554600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:64553800-64554600	Enhancers	NHLF	lung
15	chr12:64553800-64554600	Flanking Active TSS	Osteobl	bone
16	chr12:64553800-64554800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:64554000-64554200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:64554000-64554200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:64554000-64554800	Enhancers	HSMM	muscle
20	chr12:64554000-64555000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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