Variant report

Variant	rs4812592
Chromosome Location	chr20:41008019-41008020
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56701919..56711443-chr20:41001732..41019764,165	MCF-7	breast:
2	chr17:56701924..56712686-chr20:41001826..41016332,107	MCF-7	breast:
3	chr20:41005640..41008273-chr20:52676406..52679770,3	MCF-7	breast:
4	chr20:41007695..41010681-chr20:52764867..52766401,2	MCF-7	breast:
5	chr17:56734985..56738282-chr20:41002328..41009718,8	MCF-7	breast:
6	chr20:41004007..41008882-chr20:52739102..52743873,5	MCF-7	breast:
7	chr17:56733154..56738252-chr20:41001935..41015224,31	MCF-7	breast:
8	chr17:56784406..56786775-chr20:41006746..41009096,2	MCF-7	breast:
9	chr20:41006760..41008586-chr20:52815613..52817124,2	MCF-7	breast:
10	chr20:41006906..41008606-chr20:52682135..52684098,2	MCF-7	breast:
11	chr20:41007122..41009590-chr20:52811356..52813864,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1015385	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.85[EUR][1000 genomes]
rs1156500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1894593	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2425481	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2425483	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2425484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6030184	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6030189	0.82[EUR][1000 genomes]
rs6072718	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4812592	PI3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40999800-41008400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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