Variant report

Variant	rs1150789
Chromosome Location	chr6:37180355-37180356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1150788	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1224330	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1564501	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1680005	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs1757008	0.89[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap]
rs1757009	0.89[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs1757011	0.86[JPT][hapmap]
rs1757012	0.85[CEU][hapmap]
rs1766683	0.89[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs1766684	0.81[AMR][1000 genomes]
rs1976009	0.81[ASN][1000 genomes]
rs2622890	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs2788076	0.89[CEU][hapmap]
rs386305	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[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	nsv527191	chr6:37173793-37180523	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1150789	SPDEF	cis	parietal	SCAN
rs1150789	ANKS1A	cis	cerebellum	SCAN
rs1150789	KCTD20	cis	cerebellum	SCAN
rs1150789	ITPR3	cis	cerebellum	SCAN
rs1150789	C6orf222	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37176000-37182600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37176200-37189800	Weak transcription	Thymus	Thymus
3	chr6:37178200-37184200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:37178600-37180800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:37179000-37185600	Weak transcription	Dnd41	blood
6	chr6:37180000-37180600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:37180200-37180400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:37180200-37185400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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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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