Variant report

Variant	rs9471890
Chromosome Location	chr6:12482290-12482291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12331038..12333504-chr6:12480063..12482828,2	MCF-7	breast:
2	chr6:12479188..12483775-chr6:12485819..12490105,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10807283	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190676	0.82[ASN][1000 genomes]
rs12200793	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13211009	0.88[JPT][hapmap]
rs1413510	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1413511	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1999622	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999623	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2050290	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2327585	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2876273	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35802624	0.92[ASN][1000 genomes]
rs7740778	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7743158	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753779	0.87[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296391	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9296392	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9296393	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9369371	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9381187	0.94[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs9381193	0.85[AMR][1000 genomes]
rs9381200	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9381210	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9381221	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381224	0.92[ASN][1000 genomes]
rs9394914	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9394922	0.94[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9462831	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9471883	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9471890	PAK1IP1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12471600-12484800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:12474600-12482400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:12475000-12482600	Weak transcription	HMEC	breast
4	chr6:12475400-12483400	Weak transcription	Aorta	Aorta
5	chr6:12475600-12482400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:12475600-12482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:12476000-12483600	Weak transcription	Stomach Mucosa	stomach
8	chr6:12477200-12482600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:12480000-12483400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:12480200-12482600	Weak transcription	NH-A	brain
11	chr6:12480600-12482800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:12480600-12483400	Weak transcription	Osteobl	bone
13	chr6:12481200-12482400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:12481600-12483400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:12481800-12483400	Enhancers	A549	lung
16	chr6:12482000-12483800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:12482200-12482400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:12482200-12482800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:12482200-12483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:12482200-12483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:12482200-12483200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:12482200-12483400	Enhancers	NHDF-Ad	bronchial
23	chr6:12482200-12483800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:12482200-12483800	Enhancers	HUVEC	blood vessel
25	chr6:12482200-12484400	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:12482200-12485400	Enhancers	Fetal Intestine Small	intestine

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