Variant report

Variant	rs2518103
Chromosome Location	chr6:49616512-49616513
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49601000..49607060-chr6:49611110..49620964,29	K562	blood:
2	chr6:49612132..49615821-chr6:49616128..49618714,5	K562	blood:
3	chr6:49613045..49616806-chr6:49702805..49707850,5	K562	blood:
4	chr6:49604792..49608966-chr6:49614063..49617027,3	MCF-7	breast:
5	chr6:49615460..49617130-chr6:49630828..49632463,2	K562	blood:
6	chr6:49601055..49606194-chr6:49611212..49618387,30	K562	blood:
7	chr6:49613336..49617130-chr6:49630747..49632463,3	K562	blood:
8	chr6:49609579..49612225-chr6:49615743..49617397,2	MCF-7	breast:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13198157	0.80[ASN][1000 genomes]
rs2145331	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2180723	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2396917	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2396918	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799678	0.90[CHB][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6917380	0.82[EUR][1000 genomes]
rs7746868	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9395522	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9463521	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][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	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49613200-49618600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:49614800-49619200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:49616200-49617200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:49616200-49617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:49616400-49617800	Weak transcription	K562	blood

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

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