Variant report

Variant	rs10243683
Chromosome Location	chr7:48652224-48652225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10216285	0.94[ASN][1000 genomes]
rs10243913	0.86[CHB][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10254535	0.83[MEX][hapmap]
rs10255431	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10269521	0.94[ASN][1000 genomes]
rs1317438	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs1318023	0.94[ASN][1000 genomes]
rs1318024	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs17132518	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs1918578	0.83[CEU][hapmap]
rs1918603	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1918604	0.94[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1918605	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3923511	0.91[MEX][hapmap];0.84[AMR][1000 genomes]
rs6583446	0.82[CEU][hapmap]
rs6958584	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv888008	chr7:48568425-48652224	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10243683	CCM2	cis	parietal	SCAN
rs10243683	IKZF1	cis	cerebellum	SCAN
rs10243683	AKAP10	trans	cerebellum	SCAN

Chromatin state (count:3 , 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	chr7:48652200-48654800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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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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