Variant report

Variant	rs2269292
Chromosome Location	chr14:65287281-65287282
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65282387..65284619-chr14:65285854..65288049,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10144554	0.85[TSI][hapmap]
rs114813	0.83[CHD][hapmap]
rs12435626	0.90[TSI][hapmap]
rs1695751	0.83[CHD][hapmap]
rs2269293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229618	0.83[CHD][hapmap]
rs229619	0.83[CHD][hapmap]
rs230723	0.90[TSI][hapmap]
rs3819918	0.90[TSI][hapmap]
rs423927	0.81[CEU][hapmap]
rs4902325	0.85[TSI][hapmap]
rs6573581	0.85[TSI][hapmap]
rs7144515	0.90[TSI][hapmap]
rs763346	0.85[TSI][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2269292	SYT16	cis	cerebellum	SCAN
rs2269292	FNTB	cis	cerebellum	SCAN
rs2269292	GPHB5	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
3	chr14:65271400-65289800	Weak transcription	Brain Anterior Caudate	brain
4	chr14:65275800-65290000	Weak transcription	Psoas Muscle	Psoas
5	chr14:65281800-65288400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:65283600-65289400	Weak transcription	Right Ventricle	heart
7	chr14:65283600-65289600	Weak transcription	Fetal Heart	heart
8	chr14:65284200-65289200	Genic enhancers	Fetal Muscle Leg	muscle
9	chr14:65284600-65289800	Weak transcription	Left Ventricle	heart
10	chr14:65284800-65289600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:65285000-65288000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:65285000-65289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:65285000-65289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:65285000-65290200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:65285200-65289400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:65285400-65289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:65285400-65289800	Weak transcription	Spleen	Spleen
18	chr14:65285800-65288400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:65286800-65287600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:65287000-65287400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr14:65287000-65287400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:65287000-65287600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:65287200-65287400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:65287200-65287400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:65287200-65287400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr14:65287200-65287400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:65287200-65289200	Strong transcription	K562	blood
28	chr14:65287200-65289400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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