Variant report

Variant	rs8017650
Chromosome Location	chr14:39705960-39705961
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	chr14:39698773..39700516-chr14:39704009..39706576,2	K562	blood:

Variant related genes	Relation type
ENSG00000150526	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10136852	0.86[CHB][hapmap]
rs10145517	0.82[JPT][hapmap]
rs10145518	0.86[CHB][hapmap]
rs10149896	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10872918	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11626768	0.91[ASN][1000 genomes]
rs12881284	0.94[ASN][1000 genomes]
rs17109068	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17109118	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17693410	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274397	0.93[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs4393482	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4899200	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs61998537	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61998549	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61998551	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61998552	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61998554	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61998555	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6571908	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571909	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs7141921	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7148572	0.93[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs715135	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7494635	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018486	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs8019758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv84871	chr14:39698400-39707997	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8017650	FOXA1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39703000-39706400	Active TSS	Fetal Intestine Large	intestine
2	chr14:39703000-39706400	Active TSS	Fetal Intestine Small	intestine
3	chr14:39703600-39735400	Weak transcription	Pancreas	Pancrea
4	chr14:39704000-39708000	Weak transcription	A549	lung
5	chr14:39704400-39734400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:39705000-39707800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:39705200-39706200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:39705200-39706200	Flanking Active TSS	Liver	Liver
9	chr14:39705400-39706000	Enhancers	HepG2	liver
10	chr14:39705800-39706200	Active TSS	Pancreatic Islets	Pancreatic Islet

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