Variant report

Variant	rs7142344
Chromosome Location	chr14:79250144-79250145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10129219	0.83[ASN][1000 genomes]
rs10144083	0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs10145149	1.00[ASW][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs7141042	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7141475	0.91[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.92[MKK][hapmap]
rs7145730	0.92[ASN][1000 genomes]
rs7149051	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7150361	0.92[ASN][1000 genomes]
rs8012678	0.86[CHB][hapmap]
rs987644	1.00[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap]
rs9972280	0.95[CHB][hapmap];0.84[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	esv2752511	chr14:79233907-79270576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
2	esv2753664	chr14:79233907-79270576	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv431018	chr14:79233907-79270576	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7142344	NPC2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79249600-79251000	Weak transcription	Brain Cingulate Gyrus	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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