Variant report

Variant	rs7539853
Chromosome Location	chr1:225205650-225205651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225204703..225207335-chr1:225217608..225220449,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1586037	1.00[AFR][1000 genomes]
rs1892120	1.00[AFR][1000 genomes]
rs1936636	0.90[AFR][1000 genomes]
rs56815959	0.81[AFR][1000 genomes]
rs57305181	1.00[AFR][1000 genomes]
rs57383022	0.81[AFR][1000 genomes]
rs57901528	0.81[AFR][1000 genomes]
rs59479135	1.00[AFR][1000 genomes]
rs59970070	1.00[AFR][1000 genomes]
rs60161891	0.81[AFR][1000 genomes]
rs61213216	0.81[AFR][1000 genomes]
rs6669427	1.00[AFR][1000 genomes]
rs6689472	1.00[AFR][1000 genomes]
rs6695634	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7512505	1.00[YRI][hapmap]
rs7521285	0.81[AFR][1000 genomes]
rs7528282	1.00[AFR][1000 genomes]
rs7537651	1.00[AFR][1000 genomes]
rs7539846	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7544638	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3438976	chr1:225133567-225248753	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1804634	chr1:225137134-225206826	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv873225	chr1:225162060-225373936	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv549262	chr1:225191852-225319898	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv549263	chr1:225202426-225319898	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225199400-225207000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:225201200-225206200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:225204000-225217400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:225205400-225206200	Weak transcription	Ovary	ovary
5	chr1:225205600-225215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:225205600-225235600	Weak transcription	Pancreas	Pancrea

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