Variant report

Variant	rs12431729
Chromosome Location	chr14:63363444-63363445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11846438	0.92[CEU][hapmap]
rs12433909	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap]
rs12883703	0.92[CEU][hapmap];0.88[GIH][hapmap];0.84[MEX][hapmap]
rs171457	0.84[CEU][hapmap]
rs1956016	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs1956027	0.84[MEX][hapmap]
rs1980561	0.92[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs243146	0.92[CEU][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs243148	0.84[CEU][hapmap]
rs243149	0.92[CEU][hapmap]
rs243155	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs243156	0.92[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs243157	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs243159	0.92[CEU][hapmap]
rs243162	0.92[CEU][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap]
rs34487983	0.82[EUR][1000 genomes]
rs71414475	0.91[ASN][1000 genomes]
rs7155426	0.95[CEU][hapmap]

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	nsv1042953	chr14:63314591-63384260	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12431729	SYT16	cis	cerebellum	SCAN
rs12431729	SGPP1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63362400-63364400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:63362400-63365600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:63362600-63363800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr14:63362600-63365200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:63362600-63365400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:63362600-63365600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:63362800-63365400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:63363000-63364600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:63363000-63365200	Enhancers	ES-I3 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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