Variant report

Variant	rs9394914
Chromosome Location	chr6:12484683-12484684
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12483950..12485780-chr6:12486310..12488528,2	MCF-7	breast:
2	chr6:12330412..12331925-chr6:12484463..12486151,2	MCF-7	breast:
3	chr6:12288090..12290509-chr6:12483279..12484840,2	MCF-7	breast:
4	chr6:12484240..12487275-chr6:12491468..12494053,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10807283	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12200793	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12208522	0.86[ASN][1000 genomes]
rs12208572	0.86[ASN][1000 genomes]
rs12209939	0.83[ASN][1000 genomes]
rs12213065	0.83[ASN][1000 genomes]
rs12526847	0.90[ASN][1000 genomes]
rs12530036	0.86[ASN][1000 genomes]
rs13214038	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1413510	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1413511	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1999622	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1999623	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2050290	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2327585	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2876273	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34199442	0.81[ASN][1000 genomes]
rs7740778	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7743158	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7753779	0.87[CEU][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9296384	0.83[ASN][1000 genomes]
rs9296385	0.83[ASN][1000 genomes]
rs9296386	0.83[ASN][1000 genomes]
rs9296391	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296392	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296393	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369364	0.86[ASN][1000 genomes]
rs9381176	0.83[ASN][1000 genomes]
rs9381177	0.83[ASN][1000 genomes]
rs9381180	0.83[ASN][1000 genomes]
rs9381193	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9381200	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381210	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381221	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9394898	0.83[ASN][1000 genomes]
rs9394922	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9462831	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9471883	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9471890	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9689455	0.83[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9394914	PAK1IP1	cis	cerebellum	SCAN

Chromatin state (count:28 , 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	chr6:12482200-12485400	Enhancers	Fetal Intestine Small	intestine
3	chr6:12482400-12485200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:12482600-12486200	Enhancers	HMEC	breast
5	chr6:12483600-12485400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:12483600-12485400	Enhancers	Stomach Mucosa	stomach
7	chr6:12483600-12486600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:12483800-12484800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:12483800-12485000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:12483800-12485400	Flanking Active TSS	HUVEC	blood vessel
11	chr6:12484000-12485400	Enhancers	NH-A	brain
12	chr6:12484000-12486400	Enhancers	HepG2	liver
13	chr6:12484200-12485000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:12484200-12486200	Enhancers	Hela-S3	cervix
15	chr6:12484400-12484800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:12484400-12485000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:12484400-12485000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:12484400-12485000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:12484400-12485400	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:12484400-12486000	Flanking Active TSS	NHEK	skin
21	chr6:12484400-12487200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:12484400-12487600	Weak transcription	Aorta	Aorta
23	chr6:12484400-12489600	Weak transcription	NHDF-Ad	bronchial
24	chr6:12484400-12490000	Weak transcription	NHLF	lung
25	chr6:12484400-12491400	Weak transcription	Small Intestine	intestine
26	chr6:12484600-12485200	Enhancers	Liver	Liver
27	chr6:12484600-12486000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:12484600-12486400	Flanking Active TSS	A549	lung

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