Variant report

Variant	rs3915483
Chromosome Location	chr7:48663637-48663638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10268266	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11977294	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1358409	0.87[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1527842	1.00[ASW][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1918583	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4917024	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55652646	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6955686	0.84[CEU][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7809663	0.84[CEU][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649742	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.90[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	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv981394	chr7:48660932-48663792	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
3	nsv606894	chr7:48663637-48718598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3915483	CCM2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48635800-48672200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48650200-48672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:48654800-48669400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48661600-48672200	Weak transcription	Fetal Lung	lung
5	chr7:48662800-48664200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:48663400-48665000	Weak transcription	Thymus	Thymus

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

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