Variant report

Variant	rs519116
Chromosome Location	chr11:120991298-120991299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs479299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs504148	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536069	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560919	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs597345	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs616120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619115	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs626517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643744	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646371	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs657405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659434	0.93[ASN][1000 genomes]
rs659956	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661189	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670973	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524	chr11:120963503-121008167	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120975800-121005600	Weak transcription	Right Ventricle	heart
2	chr11:120976600-120992200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:120976600-120998400	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120980600-120998400	Weak transcription	Fetal Brain Female	brain
5	chr11:120981400-120992400	Weak transcription	Brain Germinal Matrix	brain
6	chr11:120983400-120993400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:120983800-120992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:120983800-120993200	Weak transcription	Fetal Brain Male	brain
9	chr11:120984400-120993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:120988800-120992000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:120991000-120991600	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:120991000-120991800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:120991000-120992000	Enhancers	Fetal Muscle Leg	muscle
14	chr11:120991200-120991400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:120991200-120991800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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