Variant report

Variant	rs12549708
Chromosome Location	chr8:88759973-88759974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12542080	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12543694	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547324	0.82[ASN][1000 genomes]
rs12549752	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550411	0.82[ASN][1000 genomes]
rs17642191	1.00[JPT][hapmap]
rs57420305	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7461029	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7465162	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv891167	chr8:88600593-88846956	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv831384	chr8:88746718-88917248	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv968516	chr8:88754170-88760731	Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12549708	CA2	cis	parietal	SCAN
rs12549708	OSGIN2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:88759600-88760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:88759600-88761200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:88759800-88760000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:88759800-88760000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:88759800-88760000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:88759800-88760000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:88759800-88760000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:88759800-88760600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:88759800-88760800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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