Variant report

Variant	rs66712717
Chromosome Location	chr5:27217968-27217969
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:27148199..27150659-chr5:27216557..27219438,3	K562	blood:
2	chr5:27217761..27220206-chr5:27285474..27288180,2	K562	blood:
3	chr5:27216556..27218871-chr5:27225893..27228267,2	K562	blood:
4	chr5:27149037..27151859-chr5:27217770..27219270,2	K562	blood:
5	chr5:27170828..27173220-chr5:27216405..27218004,2	K562	blood:
6	chr5:27212676..27215964-chr5:27216414..27219367,5	K562	blood:
7	chr5:27216775..27219556-chr5:27474982..27476487,2	K562	blood:
8	chr5:27208558..27210472-chr5:27217728..27219339,2	K562	blood:
9	chr5:27216558..27219386-chr5:27248075..27249741,2	K562	blood:
10	chr5:27142169..27144167-chr5:27216401..27218776,2	K562	blood:
11	chr5:27208394..27210780-chr5:27216486..27219339,3	K562	blood:
12	chr5:27191511..27196755-chr5:27216408..27219751,5	K562	blood:

No data

No data

No data

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12659205	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4382124	0.90[ASN][1000 genomes]
rs4392592	0.90[ASN][1000 genomes]
rs4429812	0.90[ASN][1000 genomes]
rs4487458	0.90[ASN][1000 genomes]
rs4597930	0.85[ASN][1000 genomes]
rs4604162	0.90[ASN][1000 genomes]
rs4604163	0.90[ASN][1000 genomes]
rs4627957	0.88[EUR][1000 genomes]
rs66519368	0.88[EUR][1000 genomes]
rs6879518	0.85[ASN][1000 genomes]
rs72739211	0.90[ASN][1000 genomes]
rs7701038	0.90[ASN][1000 genomes]
rs7705219	0.86[EUR][1000 genomes]
rs7714993	0.90[ASN][1000 genomes]
rs7720050	0.90[ASN][1000 genomes]
rs7724168	0.90[ASN][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	nsv917332	chr5:26620698-27232713	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv868856	chr5:26789778-27321390	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv881006	chr5:27010686-27231314	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3450425	chr5:27134073-27323407	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881286	chr5:27135351-27770554	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv880298	chr5:27193573-27659111	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv880326	chr5:27193573-27743375	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:27217400-27218200	Active TSS	A549	lung
2	chr5:27217400-27223800	Active TSS	K562	blood
3	chr5:27217600-27218000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:27217600-27218000	Active TSS	Hela-S3	cervix
5	chr5:27217600-27218000	Active TSS	HepG2	liver

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

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