Variant report

Variant	rs954723
Chromosome Location	chr11:101062931-101062932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10501971	1.00[ASN][1000 genomes]
rs10501972	1.00[ASN][1000 genomes]
rs10501973	1.00[ASN][1000 genomes]
rs10791450	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895074	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895077	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224624	1.00[ASN][1000 genomes]
rs11224647	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361300	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361308	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361309	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364289	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657984	1.00[ASN][1000 genomes]
rs17657994	1.00[ASN][1000 genomes]
rs17737091	1.00[ASN][1000 genomes]
rs17737180	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17737234	1.00[ASN][1000 genomes]
rs17737362	1.00[ASN][1000 genomes]
rs1938952	1.00[ASN][1000 genomes]
rs1938953	1.00[ASN][1000 genomes]
rs1942835	1.00[ASN][1000 genomes]
rs1942845	1.00[ASN][1000 genomes]
rs1942846	1.00[ASN][1000 genomes]
rs1943752	1.00[ASN][1000 genomes]
rs2187361	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4268474	1.00[ASN][1000 genomes]
rs4439480	1.00[ASN][1000 genomes]
rs4536177	1.00[ASN][1000 genomes]
rs4536178	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593979	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4754006	1.00[ASN][1000 genomes]
rs4754732	1.00[ASN][1000 genomes]
rs4754736	1.00[ASN][1000 genomes]
rs4754739	1.00[ASN][1000 genomes]
rs493220	1.00[CHD][hapmap]
rs495997	1.00[CHD][hapmap]
rs55736559	1.00[ASN][1000 genomes]
rs55812053	1.00[ASN][1000 genomes]
rs55915704	1.00[ASN][1000 genomes]
rs55963819	1.00[ASN][1000 genomes]
rs56018629	1.00[ASN][1000 genomes]
rs56230407	1.00[ASN][1000 genomes]
rs56409503	1.00[ASN][1000 genomes]
rs596223	1.00[CHD][hapmap]
rs632542	1.00[CHD][hapmap]
rs66931960	1.00[ASN][1000 genomes]
rs67551904	1.00[ASN][1000 genomes]
rs72976138	1.00[ASN][1000 genomes]
rs72976145	1.00[ASN][1000 genomes]
rs72976155	1.00[ASN][1000 genomes]
rs72976165	1.00[ASN][1000 genomes]
rs72976167	1.00[ASN][1000 genomes]
rs72976176	1.00[ASN][1000 genomes]
rs72976194	1.00[ASN][1000 genomes]
rs72978142	1.00[ASN][1000 genomes]
rs72997494	1.00[ASN][1000 genomes]
rs72999403	1.00[ASN][1000 genomes]
rs7926556	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934103	1.00[ASN][1000 genomes]
rs7939192	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943375	1.00[ASN][1000 genomes]
rs7946218	1.00[ASN][1000 genomes]
rs948516	1.00[ASN][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	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	esv2753322	chr11:101052790-101311790	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs954723	ABAT	trans	cerebellum	SCAN
rs954723	MMP1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101037400-101080800	Weak transcription	Left Ventricle	heart
2	chr11:101054800-101071000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:101059600-101063800	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:101060800-101073800	Weak transcription	Ovary	ovary
5	chr11:101061000-101070600	Weak transcription	Aorta	Aorta
6	chr11:101061200-101064000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:101062800-101063600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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