Variant report

Variant	rs553587
Chromosome Location	chr11:64201928-64201929
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64197362..64199430-chr11:64200195..64202972,2	MCF-7	breast:
2	11:64197420-64206402..11:64501239-64517861	GM12878	blood:
3	chr11:64155701..64157878-chr11:64200907..64203844,2	K562	blood:
4	11:64197420-64206402..11:64402707-64415880	H1-hESC	embryonic stem cell:	embryo
5	11:64197420-64206402..11:64489786-64499245	GM12878	blood:
6	chr11:64199979..64202076-chr11:64202502..64205332,2	MCF-7	breast:
7	11:64197420-64206402..11:64415880-64426617	Hela-S3	cervix:
8	chr11:64201475..64203766-chr11:64205338..64208050,2	K562	blood:
9	11:64197420-64206402..11:64523887-64530985	Hela-S3	cervix:
10	11:64197420-64206402..11:64356433-64395036	K562	blood:
11	chr11:64200040..64202027-chr11:64300129..64302413,2	K562	blood:
12	11:64197420-64206402..11:64426650-64437729	K562	blood:
13	chr11:64200342..64202053-chr11:64206735..64208236,2	MCF-7	breast:

No data

No data

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10792433	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10897494	0.81[AMR][1000 genomes]
rs10897495	0.81[AMR][1000 genomes]
rs1198935	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34104296	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs534874	0.96[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs544761	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs550840	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs606063	0.96[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs670837	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs682848	0.88[CEU][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7936395	0.81[AMR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64198200-64203800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:64201400-64204200	Enhancers	Fetal Brain Female	brain
3	chr11:64201600-64202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:64201600-64202200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:64201600-64202200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr11:64201600-64204600	Enhancers	Fetal Brain Male	brain
7	chr11:64201800-64202000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr11:64201800-64206200	Weak transcription	Placenta Amnion	Placenta Amnion

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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