Variant report

Variant	rs500273
Chromosome Location	chr11:64203572-64203573
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: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	11:64197420-64206402..11:64501239-64517861	GM12878	blood:
2	chr11:64199979..64202076-chr11:64202502..64205332,2	MCF-7	breast:
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	11:64197420-64206402..11:64415880-64426617	Hela-S3	cervix:
7	chr11:64111712..64113381-chr11:64202225..64203950,2	MCF-7	breast:
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	11:64197420-64206402..11:64426650-64437729	K562	blood:
12	chr11:64202762..64205386-chr11:64205470..64207937,2	MCF-7	breast:
13	chr11:64202312..64205347-chr11:64215134..64218077,3	K562	blood:

No data

No data

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1198936	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1207462	0.80[AMR][1000 genomes]
rs470727	0.81[YRI][hapmap];0.90[AMR][1000 genomes]
rs476908	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490720	0.80[AMR][1000 genomes]
rs539008	0.80[AMR][1000 genomes]
rs558073	1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs569741	0.80[AMR][1000 genomes]
rs575081	0.80[AMR][1000 genomes]
rs605597	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488256	1.00[EUR][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:10 , 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	chr11:64201600-64204600	Enhancers	Fetal Brain Male	brain
4	chr11:64201800-64206200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:64202000-64203600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:64202400-64203600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:64202800-64203800	Enhancers	GM12878-XiMat	blood
8	chr11:64203200-64204000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:64203400-64204200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:64203400-64207200	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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