Variant report

Variant	rs2239216
Chromosome Location	chr14:72873549-72873550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10134133	0.81[CEU][hapmap]
rs10144932	0.92[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs11158954	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs11621747	0.83[CHB][hapmap]
rs12434786	1.00[LWK][hapmap]
rs12435911	0.81[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6574073	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6574076	0.92[ASN][1000 genomes]
rs7151688	0.81[CEU][hapmap];0.92[ASN][1000 genomes]
rs7159300	0.96[CHD][hapmap];0.86[GIH][hapmap];0.86[ASN][1000 genomes]
rs8018733	0.91[MEX][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2239216	TMED10	cis	parietal	SCAN
rs2239216	C14orf43	cis	cerebellum	SCAN
rs2239216	MLH3	cis	cerebellum	SCAN
rs2239216	PCNX	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72871800-72873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72873400-72874200	Strong transcription	Ganglion Eminence 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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