Variant report

Variant	rs12577425
Chromosome Location	chr11:64203856-64203857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64197420-64206402..11:64501239-64517861	GM12878	blood:
2	chr11:64199979..64202076-chr11:64202502..64205332,2	MCF-7	breast:
3	11:64197420-64206402..11:64402707-64415880	H1-hESC	embryonic stem cell:	embryo
4	11:64197420-64206402..11:64489786-64499245	GM12878	blood:
5	11:64197420-64206402..11:64415880-64426617	Hela-S3	cervix:
6	chr11:64111712..64113381-chr11:64202225..64203950,2	MCF-7	breast:
7	11:64197420-64206402..11:64523887-64530985	Hela-S3	cervix:
8	11:64197420-64206402..11:64356433-64395036	K562	blood:
9	11:64197420-64206402..11:64426650-64437729	K562	blood:
10	chr11:64202762..64205386-chr11:64205470..64207937,2	MCF-7	breast:
11	chr11:64202312..64205347-chr11:64215134..64218077,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068831	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000237410	Chromatin interaction
ENSG00000197891	Chromatin interaction
ENSG00000181908	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10128649	0.80[ASN][1000 genomes]
rs10732887	0.93[ASN][1000 genomes]
rs1124660	0.86[CHB][hapmap]
rs1207462	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12281471	0.85[ASN][1000 genomes]
rs12283639	0.85[ASN][1000 genomes]
rs12574188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12575515	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12575690	0.87[ASN][1000 genomes]
rs12577422	0.93[ASN][1000 genomes]
rs1468558	1.00[CHB][hapmap]
rs17159027	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs1783518	0.86[CHB][hapmap];0.93[ASN][1000 genomes]
rs2232410	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2282548	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2289572	0.87[ASN][1000 genomes]
rs2302262	1.00[CHB][hapmap]
rs34031941	1.00[AMR][1000 genomes]
rs3759056	0.85[ASN][1000 genomes]
rs473379	0.95[ASN][1000 genomes]
rs474430	0.89[ASN][1000 genomes]
rs490720	0.95[ASN][1000 genomes]
rs4930167	0.93[ASN][1000 genomes]
rs493052	1.00[CHB][hapmap]
rs494998	0.95[ASN][1000 genomes]
rs4963221	0.86[ASN][1000 genomes]
rs518698	0.93[ASN][1000 genomes]
rs520277	0.93[ASN][1000 genomes]
rs539008	0.95[ASN][1000 genomes]
rs539250	0.93[ASN][1000 genomes]
rs543767	0.89[ASN][1000 genomes]
rs554812	0.95[ASN][1000 genomes]
rs569741	0.95[ASN][1000 genomes]
rs575081	0.95[ASN][1000 genomes]
rs58010797	0.93[ASN][1000 genomes]
rs58488481	0.95[ASN][1000 genomes]
rs60421451	0.80[ASN][1000 genomes]
rs60579179	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61761279	1.00[AMR][1000 genomes]
rs7121001	0.93[ASN][1000 genomes]
rs71579895	1.00[AMR][1000 genomes]
rs7950922	0.85[ASN][1000 genomes]
rs7951858	0.80[ASN][1000 genomes]

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	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv976459	chr11:64183936-64208134	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64201400-64204200	Enhancers	Fetal Brain Female	brain
2	chr11:64201600-64204600	Enhancers	Fetal Brain Male	brain
3	chr11:64201800-64206200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:64203200-64204000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:64203400-64204200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:64203400-64207200	Enhancers	HMEC	breast
7	chr11:64203600-64204000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:64203600-64205400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:64203600-64205600	Enhancers	NHEK	skin
10	chr11:64203600-64208400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:64203800-64204000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:64203800-64204200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:64203800-64204400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:64203800-64204800	Weak transcription	GM12878-XiMat	blood
15	chr11:64203800-64205200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:64203800-64205600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:64203800-64208400	Enhancers	Placenta	Placenta

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