Variant report

Variant	rs1219550
Chromosome Location	chr11:75453877-75453878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75447941..75450758-chr11:75453303..75455512,2	MCF-7	breast:
2	chr11:75446630..75448572-chr11:75453291..75455245,2	K562	blood:
3	chr11:75453248..75454833-chr11:75458597..75461064,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10160784	0.93[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10160802	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10899112	0.81[ASN][1000 genomes]
rs10899114	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10899115	0.81[ASN][1000 genomes]
rs10899118	0.82[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11236525	0.81[ASN][1000 genomes]
rs11823410	0.82[GIH][hapmap]
rs1219549	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168947	0.82[ASW][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs3060	0.83[CHB][hapmap]
rs498936	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499974	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs531117	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs559355	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs575976	0.93[GIH][hapmap]
rs59913369	0.81[ASN][1000 genomes]
rs600518	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600626	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs609379	0.82[GIH][hapmap]
rs643884	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs644361	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs656095	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs673335	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs695110	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1219550	AQP11	cis	parietal	SCAN
rs1219550	ARAP1	cis	parietal	SCAN
rs1219550	DGAT2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75445200-75455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:75446000-75454200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:75446000-75454800	Weak transcription	Psoas Muscle	Psoas
4	chr11:75446800-75454800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:75452800-75456000	Enhancers	Liver	Liver
6	chr11:75453200-75455200	Enhancers	Stomach Mucosa	stomach
7	chr11:75453200-75455600	Enhancers	Fetal Intestine Small	intestine
8	chr11:75453600-75455200	Enhancers	Duodenum Mucosa	Duodenum
9	chr11:75453800-75454800	Enhancers	HepG2	liver
10	chr11:75453800-75455600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:75453800-75456200	Enhancers	Fetal Intestine Large	intestine
12	chr11:75453800-75458000	Enhancers	Fetal Heart	heart

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