Variant report

Variant	rs12885387
Chromosome Location	chr14:72975499-72975500
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10147108	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11629448	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs11844952	0.82[CHB][hapmap]
rs12586412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1468334	0.81[CEU][hapmap]
rs2189810	0.84[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238171	0.86[CHD][hapmap]
rs4419001	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4617785	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs5008274	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7144114	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7161176	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12885387	GALNTL1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72956600-72980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:72973400-72978000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72974800-72976200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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