Variant report

Variant	rs10981978
Chromosome Location	chr9:116621217-116621218
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10429635	0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10817520	0.81[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10981921	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10981922	0.84[ASN][1000 genomes]
rs10981924	0.84[ASN][1000 genomes]
rs10981925	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10981941	0.87[ASN][1000 genomes]
rs10981981	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.99[ASN][1000 genomes]
rs12376085	0.85[ASN][1000 genomes]
rs12380621	0.80[ASN][1000 genomes]
rs12380863	0.85[ASN][1000 genomes]
rs12554801	0.91[ASN][1000 genomes]
rs12555454	0.88[ASN][1000 genomes]
rs1409382	0.82[ASN][1000 genomes]
rs7031010	0.84[ASN][1000 genomes]
rs7035099	0.86[ASN][1000 genomes]
rs987073	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10981978	EPB41L4B	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116619800-116621400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:116620000-116621400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:116620000-116621400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr9:116620000-116621400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:116620000-116621400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:116620200-116621400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:116620600-116621400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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