Variant report

Variant	rs7586778
Chromosome Location	chr2:213399373-213399374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16848746	1.00[AMR][1000 genomes]
rs16848762	1.00[AMR][1000 genomes]
rs57136034	1.00[AMR][1000 genomes]
rs73062365	1.00[AMR][1000 genomes]
rs73063136	1.00[AMR][1000 genomes]
rs73063170	1.00[AMR][1000 genomes]
rs73071786	1.00[AMR][1000 genomes]
rs73079457	1.00[AMR][1000 genomes]
rs73079466	1.00[AMR][1000 genomes]
rs73079471	1.00[AMR][1000 genomes]
rs73080834	1.00[AMR][1000 genomes]
rs73080838	1.00[AMR][1000 genomes]
rs73080855	1.00[AMR][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	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv875812	chr2:213395507-213434856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:213395200-213399600	Enhancers	Brain Substantia Nigra	brain
4	chr2:213396600-213400000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:213397600-213400200	Enhancers	Brain Anterior Caudate	brain
6	chr2:213398400-213400000	Active TSS	Brain Germinal Matrix	brain
7	chr2:213398600-213399600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:213398800-213399800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:213398800-213401000	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr2:213398800-213402600	Bivalent/Poised TSS	Fetal Kidney	kidney
11	chr2:213399000-213399400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:213399000-213399400	Flanking Active TSS	Aorta	Aorta
13	chr2:213399000-213399400	Enhancers	Psoas Muscle	Psoas
14	chr2:213399000-213400800	Bivalent/Poised TSS	Fetal Brain Male	brain
15	chr2:213399200-213400200	Weak transcription	Brain Angular Gyrus	brain
16	chr2:213399200-213400400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:213399200-213403800	Active TSS	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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