Variant report

Variant	rs1414980
Chromosome Location	chr6:133692114-133692115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1414981	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2031596	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211629	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs212826	0.82[CEU][hapmap];0.88[JPT][hapmap]
rs2184783	0.83[JPT][hapmap]
rs6900552	0.82[CEU][hapmap]
rs7750244	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs9373052	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs9375959	0.87[CEU][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9389074	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs9402506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402508	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493611	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	esv3357990	chr6:133691789-133692169	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1414980	C6orf192	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133684600-133717800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:133690800-133693200	Active TSS	Hela-S3	cervix
3	chr6:133691400-133692200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:133691400-133692400	Weak transcription	A549	lung
5	chr6:133691400-133698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:133691400-133700200	Weak transcription	Psoas Muscle	Psoas
7	chr6:133691400-133700800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:133691600-133701200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:133692000-133692400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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