Variant report

Variant	rs10501971
Chromosome Location	chr11:101040888-101040889
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	chr11:101038671..101041510-chr11:101044800..101047374,2	MCF-7	breast:
2	chr11:100996775..100999414-chr11:101040278..101042941,3	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10501972	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501973	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791450	1.00[ASN][1000 genomes]
rs10895074	1.00[ASN][1000 genomes]
rs10895077	1.00[ASN][1000 genomes]
rs11224624	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224647	1.00[ASN][1000 genomes]
rs12361300	1.00[ASN][1000 genomes]
rs12361308	1.00[ASN][1000 genomes]
rs12361309	1.00[ASN][1000 genomes]
rs12364289	1.00[ASN][1000 genomes]
rs17657984	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657994	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17737091	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17737180	1.00[ASN][1000 genomes]
rs17737234	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17737362	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938953	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942835	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942845	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942846	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943752	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4268474	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439480	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536177	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536178	1.00[ASN][1000 genomes]
rs4754006	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4754732	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754736	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754739	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs493220	1.00[CHD][hapmap]
rs495997	1.00[CHD][hapmap]
rs55736559	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55812053	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915704	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962215	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55963819	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018629	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56230407	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409503	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs596223	1.00[CHD][hapmap]
rs632542	1.00[CHD][hapmap]
rs66931960	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551904	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976138	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976145	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976155	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976165	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976167	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976176	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72976194	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72976196	0.87[AMR][1000 genomes]
rs72978142	1.00[ASN][1000 genomes]
rs72997494	1.00[ASN][1000 genomes]
rs72999403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926556	1.00[ASN][1000 genomes]
rs7934103	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939192	1.00[ASN][1000 genomes]
rs7943375	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7946218	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948516	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954723	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10501971	ELAVL2	trans	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101030600-101048200	Weak transcription	Fetal Lung	lung
2	chr11:101037400-101046400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:101037400-101080800	Weak transcription	Left Ventricle	heart
4	chr11:101038200-101050600	Weak transcription	Right Ventricle	heart
5	chr11:101039400-101041000	Enhancers	Rectal Smooth Muscle	rectum
6	chr11:101039600-101041200	Enhancers	Colon Smooth Muscle	Colon
7	chr11:101040000-101046200	Weak transcription	Aorta	Aorta
8	chr11:101040000-101046200	Weak transcription	Ovary	ovary
9	chr11:101040800-101041200	Active TSS	Pancreatic Islets	Pancreatic Islet

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