Variant report

Variant	rs607680
Chromosome Location	chr1:47993210-47993211
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47984848..47987837-chr1:47992814..47995313,2	K562	blood:
2	chr1:47993055..47994390-chr1:48191590..48192525,3	MCF-7	breast:
3	chr1:47992495..47994617-chr1:47996687..47998251,2	K562	blood:
4	chr1:47993038..47993991-chr1:48191628..48192465,3	K562	blood:
5	chr1:47993084..47993940-chr1:48176283..48176934,3	MCF-7	breast:
6	chr1:47915749..47916276-chr1:47992947..47993816,2	MCF-7	breast:
7	chr1:47993142..47994033-chr1:48175896..48176796,3	MCF-7	breast:
8	chr1:47993131..47994131-chr1:48169627..48170191,2	MCF-7	breast:
9	chr1:47992992..47995157-chr1:48002196..48004633,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1813427	0.95[AFR][1000 genomes]
rs607299	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs642750	0.87[AFR][1000 genomes]
rs657700	1.00[AFR][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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47993000-47994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:47993200-47993400	Enhancers	Liver	Liver

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

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