Variant report

Variant	rs72805668
Chromosome Location	chr2:56007975-56007976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:
2	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
3	chr2:56006149..56008907-chr2:56021297..56024096,2	MCF-7	breast:
4	chr2:56006332..56008999-chr2:56065171..56067853,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11678312	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679173	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688992	0.87[EUR][1000 genomes]
rs11691041	0.81[EUR][1000 genomes]
rs11693381	0.87[EUR][1000 genomes]
rs1367229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17047302	0.80[EUR][1000 genomes]
rs17369365	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163238	0.84[EUR][1000 genomes]
rs4671258	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671261	0.87[EUR][1000 genomes]
rs4672072	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916998	0.84[EUR][1000 genomes]
rs55987978	0.82[EUR][1000 genomes]
rs56102096	0.84[EUR][1000 genomes]
rs57233927	0.84[EUR][1000 genomes]
rs59504093	0.84[EUR][1000 genomes]
rs60693760	0.84[EUR][1000 genomes]
rs6704679	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705051	0.86[EUR][1000 genomes]
rs6719384	0.80[EUR][1000 genomes]
rs6735306	0.80[EUR][1000 genomes]
rs72797607	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797613	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805673	0.87[EUR][1000 genomes]
rs72805674	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72805675	0.87[EUR][1000 genomes]
rs72807714	0.84[EUR][1000 genomes]
rs72807727	0.84[EUR][1000 genomes]
rs72807728	0.84[EUR][1000 genomes]
rs72807744	0.84[EUR][1000 genomes]
rs72814246	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:56005600-56008800	Enhancers	HSMM	muscle
3	chr2:56006200-56010200	Enhancers	Hela-S3	cervix
4	chr2:56006400-56008200	Flanking Active TSS	A549	lung
5	chr2:56006400-56008200	Enhancers	HSMMtube	muscle
6	chr2:56006400-56008200	Enhancers	Osteobl	bone
7	chr2:56006400-56009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:56006600-56008200	Enhancers	GM12878-XiMat	blood
9	chr2:56006800-56008000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:56007200-56008000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:56007200-56008000	Flanking Active TSS	NH-A	brain
12	chr2:56007200-56008000	Flanking Active TSS	NHEK	skin
13	chr2:56007200-56008200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:56007200-56008200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:56007400-56008200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:56007400-56008200	Flanking Active TSS	HMEC	breast
17	chr2:56007400-56009000	Enhancers	HUVEC	blood vessel
18	chr2:56007600-56009400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:56007800-56008000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:56007800-56008200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:56007800-56008200	Enhancers	Placenta Amnion	Placenta Amnion

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