Variant report

Variant	rs1474447
Chromosome Location	chr12:56029584-56029585
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10783764	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2555034	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555035	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2694014	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3953273	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387385	0.85[ASN][1000 genomes]
rs4759183	0.92[CHB][hapmap]
rs6581075	0.94[ASN][1000 genomes]
rs7133382	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7295016	0.97[ASN][1000 genomes]
rs7307979	0.97[ASN][1000 genomes]
rs7965259	0.81[ASN][1000 genomes]

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	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1474447	OR6C6	cis	cerebellum	SCAN
rs1474447	SPAM1	trans	parietal	SCAN
rs1474447	HNRNPA1	cis	cerebellum	SCAN
rs1474447	RAB5B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56023200-56036800	Weak transcription	Spleen	Spleen
2	chr12:56025800-56035200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:56026600-56030800	Weak transcription	Right Atrium	heart
4	chr12:56027600-56030200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:56027800-56030400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:56029400-56030000	Enhancers	Left Ventricle	heart

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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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