Variant report

Variant	rs12531737
Chromosome Location	chr7:47698685-47698686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10951916	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs11766347	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11768009	0.83[EUR][1000 genomes]
rs11770543	0.80[CEU][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap]
rs12535121	0.89[EUR][1000 genomes]
rs12535169	0.89[EUR][1000 genomes]
rs12537656	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13242997	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs13243511	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4724606	0.81[EUR][1000 genomes]
rs4724607	0.86[EUR][1000 genomes]
rs4724608	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs4724610	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6969715	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7790431	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7790476	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs965924	1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.83[EUR][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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12531737	PKD1L1	cis	cerebellum	SCAN
rs12531737	MYO1G	cis	parietal	SCAN
rs12531737	POLM	cis	cerebellum	SCAN
rs12531737	CDC14C	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47694600-47700800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:47694800-47699000	Weak transcription	Spleen	Spleen
3	chr7:47695000-47699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:47695400-47699000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:47695400-47699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:47696800-47701600	Enhancers	A549	lung
8	chr7:47698400-47704200	Weak transcription	HepG2	liver
9	chr7:47698600-47698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:47698600-47699000	Enhancers	HSMMtube	muscle

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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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