Variant report

Variant	rs7932807
Chromosome Location	chr11:16438411-16438412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16431065..16433163-chr11:16435913..16438616,2	K562	blood:
2	chr11:16419460..16421100-chr11:16436928..16438433,2	K562	blood:
3	chr11:16438021..16439726-chr11:16453871..16456445,2	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1000565	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1039508	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11603071	0.96[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11604277	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11608205	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12276516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790582	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs12793343	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12805370	0.96[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12806133	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1370465	0.96[CEU][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs1393927	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1503441	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1503452	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1566771	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17470652	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17554835	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1847315	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34469046	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34737838	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35503644	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35944766	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66705712	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66906527	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67280587	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7930085	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7945099	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946119	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7932807	NAV2	cis	parietal	SCAN
rs7932807	C11orf58	cis	cerebellum	SCAN
rs7932807	NUCB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16427400-16438800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:16427600-16440000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:16428000-16438600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:16429400-16439200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:16430400-16440000	Weak transcription	Left Ventricle	heart
6	chr11:16432400-16440400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:16433600-16446200	Weak transcription	Aorta	Aorta
8	chr11:16434600-16438800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:16434600-16444000	Weak transcription	Psoas Muscle	Psoas
10	chr11:16436200-16438800	Weak transcription	Fetal Brain Male	brain
11	chr11:16436400-16438800	Weak transcription	Brain Germinal Matrix	brain
12	chr11:16438400-16439000	Enhancers	Right Atrium	heart

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